Fetal Cystic Hygromas in First Trimester

161 Comments:

• At Sat Sep 01, 06:19:00 AM 2007,  Anonymous said…

  Dr, My husband and I went for an NT scan yesteday in Boston. The ultrasound tech and the doctor both measured out 7mm of fluid in our baby's neck. We met with the genetic counselor, and she informed us that based on everything, we have a 50% chance of there being a chromosomal issue, and 50% of there being nothing wrong. The heart has been strong since my first ultrasound at 8 weeks, and the doctor remarked at how the heart seemed to be functioning properly. I am scheduled for a CVS on Tuesday. I guess my question is - have there been children who have been diagnosed with an excess amount of fluid on the neck, and have gone on to be delivered healthy with no issues? I know the riks and I know that it's hard to be certain. My husband and I are trying to deal with this as honestly as possible, and we know what we will do if the prognosis from the CVS proves to be dire. Thanks!
  
  Jessica

   

• At Tue Sep 04, 05:42:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jessica Sept 1: Did you have the NT done for any special reason, i.e., maternal age or previous pregnancy or family history of chromosomal problems, or simply as a routine study?
  Unfortunately, you do have at least a 50% chance of a baby with a chromosomal problem and/or a congenital heart abnormality. Theprognosis for either of these problems will depend on the final diagnosis.
  
  I am glad you are having the CVS done. That will answer the chromosomal question in most instances. However, even if this returns normal, your doctors might recommend that the baby have another study done during pregnancy or after birth to evaluate the possibility of mosaicism (two or more populations of cells, some chromosomally normal and some not. This will be especially important if any physical abnormalities are found. Also, the baby should have a very careful evaluation of its heart by 18-20 weeks, preferably, by a specialist in Maternal-Fetal Medicine, Pediatric Cardiology, or Radiology who has experience with the in utero diagnosis of congenital heart defects. The risk of a baby with a heart defect under these circumstances is proportional to the degree of NT width.
  
  But the final answer to your question is this: YES, some babies with widened nuchal translucencies in first trimester end up being perfectly normal and with no apparent consequence of their 'abnormal' NT measurement. So, best of luck to you and your husband! Thanks for reading and please let me know how things turn out. I will be pulling for you guys - all three of you. Dr T

   

• At Tue Sep 11, 07:06:00 PM 2007,  Anonymous said…

  My baby boy was stillborn at 24 weeks. This was my first pregnancy and had never had a miscarriage. I don't smoke, social drinker and healthy. I had a dating ultrasound at 9 weeks and the radiologist found an increased nuchal fold of 3.4 mm, "likely septated cystic hygroma". At that time, my OB said that he has not seen nuchal fold measurements done that early on in the pregnancy and suggested that I wait until I was 12 weeks to do another ultrasound (this NT scan is routine in Canada). At 12 weeks, the NT measurement is normal (1.4 mm) and no sign of hygroma. Looks like hygroma is resolved! My OB referred me to a genetic counsellor anyways, just to be sure. Because neither the genetic counsellor nor the OB knew what to do with the first ultrasound and I wasn't sure whether I should have an amnio, I was sent to a maternal-fetal specialist to perform a detail fetal anatomy u/s using a transvaginal device at 15 weeks. The u/s revealed two cysts: one on the neck and one in the axilla area. The specialist also suspected aortic stenosis and echogenic focus. Everything else was normal. As a result of these findings, I decided to do the amnio. The results of the amnio showed normal chromosomes and confirmed that we were expecting a boy. At 19 weeks, an echocardiogram was done. Everything was normal and no aortic stenosis. Detailed u/s done at 19 weeks also confirmed that everything was normal and no sign of hygroma. At 24 weeks, during a routine appointment, my OB could not find my baby's heartbeat and confirmed that our baby had died. This happened 1 1/2 month ago. I'm still waiting for the pathology results but OB suspects that the cause of death is cystic hygroma. Can cystic hygroma recur despite earlier u/s showing that it has resolved? Is cystic hygroma genetic and can it recur in subsequent pregnancy (no family history of chromosomal or genetic problems)? From my story, do you think that the cause of the cystic hygroma is genetic? Are there any tests that we can do to rule out any genetic problems? My husband and I would like to have children and would of course like to prevent another tragedy from happening. Your comments are appreciated.

   

• At Thu Sep 13, 07:59:00 AM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Sept 11: I am so sorry for your loss. Some of the answers to your questions can be found in my responses to other readers in this post above. I will differ from your doctor because I think it is unlikely that the baby died from the cystic hygroma. But, the baby probably did die as the result of whatever CAUSED the cystic hygroma. There are numerous causes for cystic hygromas, some of which are detailed above - chromosomal, genetic, structural heart and other defects, as well as congenital infections with viruses such as cytomegalovirus and parvovirus B19. I hope that a cause will be found on the autopsy of the baby and the placenta, because then your genetic counselor will be in a better position to tell you what the recurrence risks might be. If there is a 'genetic' cause suspected, there is an increased likelihood that you could have another baby with a cystic hygroma, but that depends on the actual genetic defect and the inheritance pattern of the same. I know this doesn't give you the answers for all of your questions, but perhaps the final pathlogy reports will. Best of luck next time and thank you for reading. Dr T

   

• At Mon Sep 17, 06:49:00 PM 2007,  Anonymous said…

  Hi Dr. T-
  
  My husband and I are pregnant with triplets and found that at our 12 week ultrasound that Baby B (an identical twin to Baby C who has some issues as well) had a cystic hygroma on the back of the neck. The other 2 babies are having some similar issues and we have been told many of the same things that have been covered with the previous posts (chromosomal abnormalities, possible heart defects, diastolic blood flow problems, etc.) This week at our 13 week US, it looks as if Baby B is no longer retaining fluid in the heart/lung area and that the hygroma has been reduced in size, but still present. Of course, this gives us hope that we may not lose all the babies. My question is this: is it normal for a hygroma to fluctuate in size? I know it is too early for any guarantees, but what are your thoughts on this new info? Thank you for posting all of this information, it has been the most helpful site that I could find on the net!
  
  Katherine

   

• At Wed Sep 26, 05:44:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Katherine Sept 17: OMG Katherine, this has got to be tough. If I understand you correctly, all 3 babies have cystic hygromas and at least two have evidence of hydrops? Could all 3 babies have come from the same embryo - that has happened before! Are these septated cystic hygromas or simply widening of the nuchal translucency? I am presuming the former from what you have told me. Have you had a CVS done on any of the placentas, are you thinking about amniocentesis if they get through first trimester, or are you planning to let nature take its course under the circumstances?
  
  Anyway, cystic hygromas can fluctuate in size. We understand that no better than we understand why they are there in the first place. I have also seen them resolve completely. Unfortunately, < 20% of babies with cystic hygromas have a completely normal outcome and the odds decrease moreso if they have hydrops, regardless of the cause, chromosomal abnormality, structural abnormality, or unknown. However, I am aware of at least one study in which a familial history of nonseptated cystic hygromas is described and all of the babies were chromosomally and structurally normal otherwise. This must be exceedingly rare, but it does offer some hope. Please let me know how things turn out. Thank you for reading and I apologize for the delay in my response. Best wishes. Dr T

   

• At Sun Sep 30, 08:30:00 PM 2007,  keyj20 said…

  Dr. Trofatter - I'm not sure if this is the proper way to ask for your help, but I'll try - after weeks of searching for information, I've come across this website multiple times. Your comments are thorough and very informative.
  
  In early August, my husband and I found out that we were expecting our third child. He is 39, and I am 34. This is my third pregnancy; I've never miscarried. At a 10 week ultrasound, doctors found a 6 mm cystic hygroma. At 12 weeks, it measured 5.75 mm, and no other problems were detected (although we were cautioned that it is very early to tell for sure). The doctor said he may have detected slight ascities, but he couldn't be sure. He commented that the heartbeat seemed strong. When we asked if he could tell what the sex was, he said he suspected she's female, but couldn't be sure. I am scheduled for an October 12 amniocentesis (I'll be just shy of 15 weeks).
  
  The doctor said he suspects Turner's Syndrome, but that it could be Down's, Trisomy 18 or 13, or others. From the information I've given, would you agree with his preliminary feeling? My husband and I are expecting the worst, and realize there's a very real possiblility this baby will die soon, but we are scared of the prognosis being Down's (which has a better chance of surviving to birth, correct?). With a 3 year old and a thirteen-month old, we are not sure we would be able to balance their needs and those of a Down's baby.
  
  If the prognosis is Down's, does the presence of the cystic hygroma and its size indicate a more severe form of the syndrome? If the heartbeat was strong at 12 weeks, how likely is it that the baby will not make it to the amniocentesis at 15 weeks? I know these are things that you can not definitively answer, but we are so scared. Any information you can share will be greatly appreciated. Thank you so much!

   

• At Wed Oct 03, 05:55:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To keyj20 Sept 30: Your doctor has correctly informed you of the more common causes of cystic hygromas. The only other thing I would add is that some babies have these accompanying major cardiac malformations (with or without having a chromosomal abnormality). As you also are aware, if the baby develops hydrops, the prognosis is much graver. It has been my experience that the larger the cystic hygroma, the longer it persists, and the presence of hydrops dramatically increases the chances of losing the baby before 20 weeks. If your baby survives to 15 weeks and is found to have Down syndrome, or any other chromosomal abnormality, please spend some time with a genetic counselor and also some time learning more about the condition on your own via the internet and through others who have been in your situation. In the end the decisions you make must be ones you are comfortable with, not what other people tell you is the 'right' or 'wrong' thing to do. If you care to share, please let me know how things turn out. Regards, Dr T

   

• At Sun Oct 14, 05:32:00 PM 2007,  Cristy said…

  Dr. T:
  My daughter in law and son are in their mid 20's. They are healthy young adults and this is their 1st pregnancy. They went for their 10wk ultrasound and everything was normal. Last Friday they went for their 2nd U/S to determine the sex of the baby when their nightmare began. The tech. noticed a problem and called the Dr. in the examining room. He said the baby has a Cystic Hygroma and possible Turner Syndrome. No one has told the sex of the baby. They went to see the OB/GYN and she ordered an Amnio for the following week (still waiting for results). During the procedure the Dr. performing the Amnio told them the baby's lungs and kidneys were "bright" and that it's consistent with Turner Syndrome. They were so devastated they didn't think to ask the Dr. what he meant by that? They would like to know, what does "bright" mean? and why does the Dr. link "bright" to Turner Syndrome? They are still waiting for the Amnio results and we are all devastated to say the least. That's the reason I'm writing to you instead of them they are too upset and my daughter in law all she does in cry. The baby appears normal (moving around, etc.) and heart beat is normal. They also spoke to the genetic counselor but she told them the same thing we've read, nothing different. They took a blood sample from the parents to see if there's any genetic problems? I guess that's a routine procedure. At no time has anyone told them the size of the Hygroma nor the chances of the baby surviving or not? One thing that concerned them was that during the 1st U/S she was supposed to be 10 wks. pregnant and on the 2nd one, she was supposed to be 20 wks. But on the 2nd U/S they were told the baby was the size of a 14 wk. fetus. when they did the Amnio the following week, they said the baby looks like it's 15 wks. old. They are not sure if the baby is not growing due to a major problem, or that there dates are wrong. Their question is, why wasn't the Cystic Hygroma detected on the first U/S? They are devastated bcuz unfortunately, they have seen the baby 3X during the different U/S and the baby appears to be fine and moving around. Also, watching the baby makes you bond more since you're actually looking at your baby. They don't understand after reading many blogs regarding the same issue, why hasn't anyone told them the chances of the baby surviving or not? So far everyone is indicating Turner Syndrome but no one is telling them survival odds? Please let me know what you think. Thank you so much!
  Sincerely,
  A devastated Grandma

   

• At Mon Oct 15, 07:01:00 AM 2007,  CBB said…

  Hello to anyone reading this. To get to the point - I was told at 14wks that my baby had a cystic hygroma 5mm thick around the back his neck. We had an amnio and it came back normal, we had genetic consultants take scans and they checked his heart and kidneys which were functioning normally. One scan did pick up the possibility of an extra digit on one of his feet, but they weren't sure. No one could offer an explanation or prognosis for his condition. The pregnancy progressed and I had regular checks and scans. All the while the consultants were half expecting me to arrive fearing that I had lost him and we never knew quite what to expect after the visits. Four weeks before he was due the fluid appeared to be reducing and the prospects were looking good. My baby is now 6 months old and is the happiest smiliest child I've ever seen. His does have an extra toe on each foot (a big toe with two bones) and will need surgery. But everyday I count my blessings that he is here. You here so many stories and looking on the internet can somtimes be a bad thing. Cystic hygromas, I've found occur for many reasons but not all are bleak. I would not change my boy for the world - he is perfect and gives me so much joy. The future and how he develops is still unknown - but isn't that true of all of our lives? My heart goes out to all those who have experienced loss but have hope and take each day as it comes - you just never know how lucky you can be.

   

• At Fri Oct 26, 01:47:00 PM 2007,  Anonymous said…

  Dr. Trofatter, I found many of your posts by "googling" cystic hygroma. I am 35, and like many of the people on these recent posts, I too have gone for a first trimester screening with my third pregnancy. I have two healthy girls and both pregnancies were great. I did have a first trimester screening with my second daughter because at that time, my practice began recommending them for all patients as an option. At 10 weeks, I had a dating ultrasound and everything looked fine. At 12 weeks, during the first trimester screening, the fetal medicine doctor said the baby had a very large cystic hygroma that went down the back, 7.8m. At the time he gave very little hope of this baby surviving the pregnancy and suggested that if the baby were born, it would only have a 1 percent chance of survival. (Giving us the statistics of as high as 66 or 75% chance of chromosome abnormality and even if that came back negative, heart or other major organ problem). The genetic counselor called it a failed pregnancy and stated that it would be reasonable for us to decide to terminate at any time. There were no fetal hydrops, no aseides. We opted to do the CVS and thank God we waited for the results. The results have been crazy. It turns out the baby's 46 chromosomes look normal. They ruled out Turner's, Down's, etc. However, the baby has a small marker chromosome. So my husband and I went for bloodwork to determine if either of us has this marker. The results came back and my husband has the exact same marker. The genetic counselor said that because my husband is a healthy, normal adult, the general rule is that the marker will not have a negative effect on the baby's outcome. Then today, we received a call that the baby's test determined that the marker chromosome is tied to chromosome 15 (the makeup within the marker showed no critical genetic material that would negatively impact the baby). But that even though the risk is small, they want to test in the rare event of a UPD, where the 15th chromosome potentially comes from just me, or just my husband. I am fairly confident this review will show that the baby's 15th chromosome is fine; however, my question for you is: Is there any data to suggest that a marker chromosome could be the cause of a cystic hygroma? We've been told no, but I just wonder how much data there is to support that answer since it is supposedly rare. And even if this turns out fine, we still face risks because of the size of the cystic hygroma. Is it more hopefull now that we have ruled out so many other issues? I just feel that these studies have put us in this cycle of testing that will never result in concrete answers. I've been trying to handle this in a positive way, but I feel that my health is being impacted (hardly sleeping, feeling overwhelmed). I also feel my care is suddenly in the hands of a genetic counselor and some lab in Minnesota because no doctors are really giving us any information. I've had to relay this information to my OB-GYN (which happens to be a large practice so I end up having to see one of many). Where can we turn for help? Should I be having another ultrasound?
  
  To CBB: Thank you for your post. It honestly is so wonderful to hear stories of people who have had a similar first trimester result with a positive outcome. There is so little information out there of people who have made it through this with great results! Good luck to you.

   

• At Sat Oct 27, 05:12:00 AM 2007,  Anonymous said…

  Hello Dr T,
  
  When we went for our 12 week scan the dr detected a cystic hygroma measuring 8mm at the back of our baby's neck. He gave us odds of 2:1 of the baby having a chromosomal abnormality. We went for a CVS and the results came back negative. By 16 week scan the hygroma had become a lot smaller- dr said just some loose skin around back of the neck with small amount of fluid left. It has been looking like that since, I am now 21 weeks pregnant. We had full anomoly scan and all organs etc look fine.Yesterday we had a heart scan on baby, thankfully that too is looking normal. We then had another scan with dr, I was concerned that the femur length and head circumferance measured the baby at 19 weeks 2 days when I was actually 20 weeks 5 days. Dr said it is too soon to tell if there is anything wrong, that it could just be that the baby is small.
  
  I am still frantic with worry despite the better news we received re chromosomes, heart, fluid reduced etc. I know the baby could still have a genetic syndrome and we will not know for sure until he is born. What do you think our chances of having a healthy baby are, given what has happened?
  
  Thank you

   

• At Mon Nov 05, 03:49:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Oct 27: I think we will become more accurate in predicting the outcome of cystic hygromas in chromosomally 'normal' babies as we do more and more first trimester screening and find them more frequently. As you are well aware, your baby is still at risk for genetic sydromic problems and even congenital anomalies that have not yet been detected. The best outcome for a 'normal' baby under these circumstances is only in the range of 10-20%, but I certainly hope you are one of 10-20%. Please let me know how things turn out. I am never too old to learn myself. Thank you for reading and best wishes to you. Dr T

   

• At Mon Nov 05, 04:32:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Oct 26: I know the 'general rule' is that if you find the same "marker' in one of the parents, the overall risk of aneuploidy is reduced. But, I guess I have to be somewhat concerned because the baby has the cystic hygroma that as the result of acquiring the 'marker' chromosome from your husband, or perhaps as the result of crossing-over during the pairing of chromosomes in meiosis that resulted in the sperm that helped make this baby, a small amount of chromosomal material was either added or deleted. I am afraid, you are right. You are in a cycle of testing that might not end until well AFTER the baby is born. I hope everything turns out alright for all of you. Thanks for writing and I am sorry if I cannot fully answer your concerns at this time. Dr T

   

• At Sat Nov 10, 05:38:00 PM 2007,  Anonymous said…

  Hello, I am 29 years old 20 weeks pregnant with my second child. I recently had my level 2 sono done and found out that my baby girl has a bright spot in the heart as well as a choroid plexus cyst on one side of her brain the perinatalogist said that one was not related to the other but that both are "soft" markers for either t18 or down's amnio was not recommened due to the fact my sequential screening was normal and ny age, although my husband and I have opted for an amnio any way which was due this friday, they said I would more then likely have results of my fish test by monday. We are scarred the only reassuring thing is that otherwise she is completely normal and growing according to dates they say the findings found are also found in healthy normal children.

   

• At Tue Nov 13, 05:54:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Nov 10: There is not a day that goes by that I don't have to discuss echogenic intracardiac foci and choroid plexus cysts to patients. I could also tell you horror stories related to what patients and physicians have done after finding these VERY common 'soft markers.' I have come to accept them as 'normal anatomic variants' and, in the absence of stronger 'soft markers' or congenital abnormalities, don't give them much, if any, significance in counseling to my patients. I am looking forward to the day when we do not EVER have to even mention them to patients again. Invariably what happens is that patients do exactly what you did and that is the result of a great disservice on our part as your providers. You will sleep better after you get back your NORMAL chromosome results, but I wish you hadn't been put in the position that you had to make the decision to have an amniocentesis! Thanks for reading and let me know if it's a normal boy or a normal girl! Dr T

   

• At Thu Nov 15, 09:08:00 AM 2007,  Madhu said…

  Hello,
  
  I am 29 years old and In my 12 week scan my baby has cystic hygroma about 3.3mm. We opted amnio and it was normal. At 20th week scan, baby developed fluid around the chest cavity. The fluid disappeared after one week and hygroma got small. Fetal echocardiogram is normal. Atv29th week ultrasound, ther is no cystic hygroma, but they said the neck is a little bit thick(12mm). I do not know what to expect? Is it normal to disappear fluid in the chest cavity within one week? what does neck thickness mean?
  
  Maddy

   

• At Fri Nov 16, 08:55:00 AM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Maddy Nov 15: Even though your baby is chromsomally normal, it could still have a genetic problem or a physical abnormality that has not been detected and has led to the cystic hygroma and transient pleural effusions. Then again, your baby may still have none of these problems and turn out just fine! The thickness of the skin on the back of baby's neck is most likely simply redundant tissue resulting from the cystic hygroma that stretched the skin and connective tissue early in fetal development. Hope everything turns out okay! Thanks for reading and please let us know. Dr T

   

• At Mon Nov 19, 03:06:00 PM 2007,  Anonymous said…

  Dr. Trofatter,
  
  My husband and I went for our NT scan today and were told our baby has a cystic hygroma. This is our 2nd pregnancy with the same thing. We lost our baby last year (12/22/06) due to heart failure because of severe case of hydrops. Why is this happening a second time? What should we do to keep this from happening? Should we have genectic testing or is this some form of automal recessive trait that we should have investigated. What questions should we be asking? PLEASE HELP!
  
  Cher

   

• At Mon Nov 26, 06:25:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Cher Nov 19: For some reason it took until today for me to get your comment. Did you have chromosome studies done on the baby you lost and what were the results? If you did not, you MUST have those done on the current baby if anyone is to begin to give you adequate counseling. After I hear back from you, I will have some other suggestions. I am so sorry for the problems you are having, but more information is needed before I can tell you what your risks might be. Dr T

   

• At Tue Nov 27, 01:54:00 AM 2007,  Anonymous said…

  Dr Trofatter
  I went for my 12 week ultrasound yesterday, the consultant measured the fluid at 8.2mm on the babys neck and back. However the brain, heart, and general structure appeared normal. He said to return for a repeat ultrasound in a weeks time. Have you ever heard of a baby with such a large amount of fluid making it and what would you advise me to do next

   

• At Thu Nov 29, 11:38:00 AM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Nov 27: That is a very abnormal nuchal translucency and carries a very high risk that your baby has a chromosomal abnormality, so we would offer you genetic testing now by chorionic villus sampling. If you opted not to have that done, we would strongly recommend an amniocentesis at 15-16 weeks. Dr T

   

• At Sat Dec 01, 03:53:00 AM 2007,  Anonymous said…

  Dr Trofatter
  Thank you for your reply to my question Nov 27th. We have not had an amnio done, and are reluctant to do the cvs for fear of miscarriage, but do you think there is any chance of the fluid going down and the baby being born alive? thank you for your help!
  ps the other organs all appeared normal tho the blood tests gave a 1:60 chance of Turners and a 1: 2 of downs.. Thanks! x

   

• At Thu Dec 06, 06:45:00 AM 2007,  penny said…

  dear doctor
  iwent for my anomaly scan today and have been told that i need a growth scan in 4 weeks. this is due to the BPD and AC measurements beig larger than they should be. the sonographer said there could be a number of reasons for this. do i have anything to worry about he did mention diabetes what other explanations could there be for this
  
  thanks penny

   

• At Fri Dec 07, 12:35:00 PM 2007,  Anonymous said…

  Dr. T and anyone who may have read my earlier post, I wanted to update you on our situation for anyone who could benefit from it.
  
  I posted on October 26 that our baby had a large cystic hygroma at 12 weeks. The CVS results showed a marker chromosome which she shared with my husband.
  
  After a follow up ultrasound at 15 weeks and another at 18, we sadly learned our daughter had a pretty severe skeletal dysplasia. We lost her and went through with delivery to allow an autopsy and x-rays to help with a final diagnosis. It is believed that she had campomelic dysplasia though we won't know for sure for a while.
  
  Best wishes to anyone going through such a difficult time and awaiting test results. We pray for all of you.

   

• At Thu Dec 13, 02:40:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Penny Dec 6:Penny, you didn't mention how far along you are and if you have been screened yet for diabetes. Regardless, if there are no physical abnormalities of the baby seen, chances are it is just a big baby. That can come from diabetes, but it can also come from the baby's genetic background - Mom or Dad! If your husband played college football, then maybe it's time to sign up your baby as well! In all seriousness, there are some genetic conditions that are associated with overgrowth of babies (such as Beckwith-Wiedemann syndrome), but overall odds are that your baby is normal, just BIG! Most of the time, we would rather see a baby who is a little bigger, than one that is too small. Good luck and let us know how things turn out. Dr T

   

• At Fri Dec 14, 01:02:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Dec 1: Sorry to have been so slow to respond, but I just got your comment. Yes, it is possible the baby will be born alive. The cystic hygroma by itself doesn't usually cause the baby to succumb in utero, but the underlying reason for the cystic hygroma might. In your case, the baby probably does have a chromosomal abnormality and under those circumstances, its chance of survival depends on the type of chromosomal abnormality and associated congenital abnormalities, particularly of the heart. If the baby develops fluid throughout the body (hydrops fetalis) then you probably will go on to lose the baby. Incidentally, if you have an amniocenetsis done and then lose the baby, the overwhelming odds are that the loss was NOT the result of the amniocentesis. Good luck to you - I know this has been hard. Please let us know what happens. Dr T

   

• At Fri Dec 14, 01:11:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Dec 7: I am so sorry for your loss and thank you for sharing your story with me and other readers. Let us know if we can ever help with any other questions you might have. Dr T

   

• At Sat Dec 22, 06:44:00 PM 2007,  krissy said…

  i am 42 and currently 12w1d with twins...baby B "looks" normal....baby A has cystic hygroma.....lots of fluid behind the neck, in the abdomen, and all over it's body underneath the skin....doctor said baby A has a 95% chance of dying in utero.....i burst into tears and am completely devastated......we ahve options....one option is to do nothing and let nature take it's course....there is no telling how long baby A will live....if it dies now, then there is no harm to baby B....but if it dies later on in the pregnancy then there is a good chance that will lose both....another option is to selectively reduce the pregnancy...which carries a miscarriage risk to the remaining baby....i think it's 6%......i think terminating baby A would be the best decision in order to protect baby B....what do you think?? or we could wait 3 more weeks and do amnio on both babies to see what we're dealing with as far as chromosomes and then make our decsion....but i'm afraid if we wait that long, then baby B will be at a mugh higher risk of miscarriage should we wait 3 to 5 more weeks to terminate...what are your thoughts?? what would you recommend?? please help....thank you....krissy in massachusetts

   

• At Fri Dec 28, 04:57:00 PM 2007,  Anonymous said…

  i have more of a question. my daughter is pregant for the second time her first child had cystic hygroma in pregancy he is not the healthiest and is delayed in learning he is about 1 1/2 years behind. ok the question do you know what the likelyhood of a second time? we have yet to get any kind of reason or diagnosis for him. he has seen one specialist after another and we have no answers. i also am afraid because with this pregancy my daughter has no insurance and has yet to see a doctor. with her first we alll ready knew there were possible problems she is now about 14 weeks. i am scared for my next grandchild and my daughter. can you give me any info

   

• At Fri Jan 04, 05:57:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Frissy Dec 22: I am so sorry for taking so long to answer, but Healthline has had some 'technical difficulties' and I JUST got your comment today (Jan 4). At your age, there is a very high likelihood that baby A is chromosomally abnormal and if that baby is already hydropic, there is also a very high likelihood you have lost it already or will in the near future. Waiting "3 weeks" under these circumstances is certainly reasonable. If you have not lost twin A by that time, your choices are still to undergo 'selective reduction' or to just let nature take its course. You might consider an invasive diagnostic procedure that can give you a chromosomal result on that baby before making your final decision. In my experience, if that baby is lost before 20 weeks by either route, there is a good chance your doctors or their Maternal-Fetal Medicine consultatnts will be able to get the other baby to a point of good viability, if not to term. The choices are hard but you have to make the decision that's right for YOU given the information with which you have been provided. I am sorry you are having to go through this. Best wishes to you.
  Dr T

   

• At Fri Jan 04, 06:02:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Dec 28: I wish I could help, but the real answer lies in the 'heritability' of the problems the last baby had. If this is not a genetic problem, then there is a very small chance of it happening again. If it is, then the chance of recurrence depends on the particular gene defect, the penetrance of the abnormality (i.e., how likely and to what extent the problem will be expressed if one has the genetic abnormality), and the inheritance pattern. The odds are in your favor, however, that the current baby will be 'normal.' Thanks for writing and best of luck to you!
  Dr T

   

• At Sun Jan 06, 03:48:00 PM 2008,  Anonymous said…

  i there, was just after some advice. I fell pregnant in july this year but unfortunatly was told the baby had a cystic hygroma, was diagnosed with edwards syndrome at 12 weeks from a CVS, had a termination at 12 weeks + 4 days. I feel pregnant again almost instantly afterwards and was devestated to be told of a suspected cystic hygroma, had a CVS and came bk as downs syndrome, had a termination at 12 weeks. My worry is that this has now happened twice, i am only 24 years old and already have a beautifully healthy 2 year old daughter. i am in england and have been told by my consultant that it has just been bad luck, me and partner have both had ourselves tested for any genetic problems but all came bk clear, basically am just seeking a second opinion to this occuring again.
  
  many thanks

   

• At Thu Jan 10, 07:11:00 AM 2008,  Anonymous said…

  I am almost 33 and am pregnant with my 3rd child. We had some issues with dating the pregnancy (I was breastfeeding and irregular) so I went in to get an ultrasound for dating, as my provider was concerned it was small. I am sure it is not but that would take too many words haha. At the u/s the baby was dated at 9weeks 2 days (I know it should be 3 but that is so tiny a difference) but at the low-level u/s was found to have a 3mm nuchal translucency. The tech brought in a doctor and we did a transvaginal high frequency scan in which he said it was variable (all down the back BTW) of 1-2mm. Then he sits down and basically says bummer for you, the baby has a cystic hygroma and go to the genetic counselor. From everything I have read 9.2 weeks is very early for the test - could it be the fetus just hasn't completely formed it's lymph system yet? Is it really a cystic hygroma at all?(doesn't look like any I found on line) Next week at 10.2 weeks we go the genetics counselor. I am debating waiting another week for a follow-up u/s before agreeing to the CVS (so about 11 weeks when the test should be done). At the u/s I just had, they didn't check the heart, blood flow or anything. The were kind of tightlipped which angers me. My husband said they seemed panicked. I would prefer they are open about all the findings. My husband and I are trying to educate ourselves and these few days have been hard - keep it if it's turner's, abort of it's Trisomy 19,18 and whatever.... what if it somes back normal? I never even did a triple screen but my other blood tests are fine. I feel myself praying for a miscarriage just to get relief and resolution.
  
  My question in a (big) nutshell. Was it too early to measure this and was it really that abnormal to find that at this age? Should I just do the CVS or wait a week to see if the CH is gone? For all the women who never get these early scans and have perfect babies - haw many of them could have had this so early? Maybe a lot I am thinking. I don't know. We do not want a mentally handicapped child. I know this sounds cold but that is how we feel. We understand that accidents can happen later in life but we don't want a baby with that card removed before the game begins. Are there extra tests we should insist on? If all comes back normal and the cyst resolves are we out of the woods? If all is "normal" and it doesn't go away by the 14th week would that indicate there is an issue they didn't find and should be terminate? This is so horrible because whether we do or not - I still love this little guy. And it will hurt forever.
  
  thanks for anything you can provide. I have read all other posts.

   

• At Thu Jan 10, 11:09:00 AM 2008,  Anonymous said…

  Doctor,
  There's a difference between an NT scan coming back with an abnormally high reading and a diagnosis of cystic hygroma, right?
  Don't cystic hygromas have divisions with them (septations) and are usually round shaped?
  Thanks.

   

• At Sun Jan 13, 10:00:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Jan 6: Both Edwards syndrome (trisomy 18) and Down Syndrome (trisome 21) come about (most of the time) as the result of chromsomal nondisjunction during the final stages of egg development (reduction divisions)just prior to ovulation. When this occurs, instead of the daughter eggs each getting an even split of chromsomes (23 in each), one egg gets 22 and one gets 24. If either gets fertized, you will end up with a baby that has one too many (47) as has happened with your two recent pregnancies, or one too few (45) chromosomes. All women are at risk for this happening and it is that which increase your risk with age. Now you are young and your age alone risk for having a baby with a chromosomal abnormality should only be about 1 in 1000. But, because you have had this happen twice, you may be one of those individuals who is at much greater risk for it happening again, for reasons we do not fully understand. Even then, the odds are still in your favor for a 'normal' baby, but some geneticists will quote a risk as high as 1-2/100 under your circumstances (that would be a 10-fold increase over your 'age alone' risk). Anyway, good luck to you, thanks for reading and for asking a great question! Dr T

   

• At Sun Jan 13, 10:06:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Jan 10: A cystic hygroma can be either septated or not. Sepatated cystic hygromas carry greater than 50% risk of a chromosomal abnormality. regardless, the first step in this process is that you should talk to a geneticist and get a second opinion as to whether or not the baby actually has a cystic hygroma. Sometimes at 9 weeks it is eay to confuse incomplete fusion of the amnion with a cystic hygroma. Regardless, under these circumstances, I have found that some folks are so 'spooked' by the possibility of the baby having a chromosomal abnormality, they proceed directly to a CVS to find out for sure. From what you have told me, even with the 1% risk of the CVS, that may be what you will choose to do. Best wishes. I know this is hard to go through. Please let me know what you find out. Dr T

   

• At Wed Jan 16, 01:47:00 PM 2008,  donna said…

  Dr Trofatter,
  
  
  I am 42, first pregnancy, I had an NT on 12/3, I was 11 weeks, 2 days pregnant my NT was reported as normal with 1mm nuchal fold and the follwoing info given CRL 46mm, HR 167. I just had a positive AFP with a 1:6 reported for Down's Syndrome, which I had one hour after consuming Glucola for my OGTT. Could this affect the test and could I be comfortable with results of a normalLevel 2 if it is again normal

   

• At Thu Jan 17, 11:56:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Donna Jan 16: When you had the NT measurement done, did you have the full combined risk assessment, including maternal blood samples, performed or just the NT measurement? If you had the full test sent off, what ws your risk for Down syndrome. If they only did the NT measurement, that has only about a 50% chance of dtecting Down syndrome in first trimester (whereas the full test has about a 90% chance). If you did not have the maternal serum component done in first trimester (and that was reassuring), then I have to be more concerned about the maternal serum screen results in midtrimester. I don't know if the glucose tolerance test might have affected that result because it is so unusual that we would do those two tests together at the same time. Unfortunately, if we are dealing with a 1 in 6 a priori risk for trisomy 21 based on the maternal serum screen, a comnpletely normal ultrasound at 18-20 weeks can only reduce that risk by 60-80% (some folks say 90%), but that still leaves you with a risk equivalent to your age alone risk. We would ordinarily suggest an amniocentesis under these circumstances, but that choice is entirely yours. Best of luck to you and please let me know how things turn out. We will keep our fingers crossed! Dr T

   

• At Tue Jan 22, 08:24:00 PM 2008,  Anonymous said…

  Hi Dr. Troffatter,
  First I want to say thanks for such a helpful medium to provide information to us grieving and concerned mothers. I was informed last week (10 weeks into my pregnancy) that my baby also has cystic hygroma. This is my 1st pregnancy at 33 years old. Unfortunately I didn't know much at the time to ask the question that so many of the writers here seem to know about, including the size. The perinoligist just advised that it doesn't look prominsing for my baby. He expects the baby to pass within the next 2 weeks on its own, perhaps the heart will stop beating he advised. He merely advised that I schedule aother visit with him for 2 weeks from date of the findings. I am not sure what to do with myself for this 2 week period, I am depressed, curious, and just don't know enough about this. Does the size determine the severity of the outcome? Why do I need to wait for 2 weeks? I did 6 sonograms in 1 day so it has been confirmed several times. I have had some slight bleeding since the time it was discovered...not sure if that has anything to do with the hygroma or the numerous sonograms in 1 day...any suggestions here? Is there any test I can do now while I am waiting to help me better understand what caused this and the likelyhood of this reoccurring. Please advise.

   

• At Wed Jan 23, 05:04:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Jan 22: Yes, there is something you can do rather than waiting. The overwhelming odds are that this baby is chromsomally abnormal and you could have a chorionic villus sampling done and get an answer in less than a week if they are able to perform some direct preps on the tissue. The bleeding may be coming from the somograms, but you could also be in the process of miscarrying as so often happens under these circumstances. If you do miscarry and have not had the CVS done, I would recommend you have the fetal or placental tissues analyzed to determine the fetal karyotype. I am so sorry. Best wishes to you. Dr T

   

• At Thu Jan 24, 08:48:00 AM 2008,  Anonymous said…

  Anonymous Jan 22nd:
  Thanks for responding to my earlier note. I scheduled an appointment for next Friday to have the CVS done and to also meeting with a genetics counsellor. I have 2 follow-up questions: I have fibroids, do you think this will cause a problem during the procedure? Also, I have been on acne medication for the last 15 years. Most recently at least 2 to 3 weeks into the pregnancy before I knew I was pregnant I was using Differin and Duac. Over the years I have used a host of products including the Retin A based. Do you think this may have anything to do with the diagnosis of cystic hygroma...just curious? As I plan better for hopefully future pregancies, is there a recommended acne product i should used?

   

• At Fri Jan 25, 08:01:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Jan 24: The fibroids may or may not be a problem. Depending on their location, they could make the procedure more difficult to perform or increase the risk of losing the baby as the result of the procedure itself - especially if you have had bleeding in early pregnancy. In your circumstances the risks are probably justified because of the fetal findings. As you know, Differin (adapalene) is a retinoid (vitamin A derivative). Generally, we would prefer you not to be on retinoids in early pregnancy (especially oral agents like accutane). Differin, however, is a category C drug, and as a topical agent, I am not aware of any signifcant correlation with any specific birth defects and according to the data I have seen, very little systemic absorption to put the baby at risk. The Duac is a combination of benzoyl peroxide and the antibiotic, clindamycin. This is probably safe enough to continue throughout the pregnancy. In short, it is unlikely that either of these drugs contributed to your baby's cystic hygroma. Again, good luck and please let me know what you find out. Dr T

   

• At Mon Jan 28, 02:48:00 PM 2008,  Kristi said…

  Dear Dr.T,
  With my first pregnancy a cystic hygroma was found at 13 weeks. I had an amnio which came back normal for all genetic and chromosomal abnormalities. We went through all other tests that were offered and at 35 weeks the CH was gone. My daughter was born perfectly healthy and now is 17 months and even a bit advanced for her age.
  I am now pregnant with baby #2. Today I went for the 1st trimester ultra screening and yet again the baby was diagnosed with a CH of 6mm. Have you ever heard of this happening twice? I'm so nervous because I feel like we bet the odds once. Can it happen again? The doctors can't give me an explanation and are providing nothing better than the first time. I will be having the CVS test on Feb 8th and the waiting period is the hardest part.
  Any advice would be greatly appreciated.
  All the best,
  Kristi

   

• At Tue Jan 29, 06:11:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kristi Jan 28: I have answered your question in my full post from today - January 29, 2008. Best of luck to you and let us know what happpens...
  Dr T

   

• At Tue Feb 05, 01:15:00 PM 2008,  KBLoranger said…

  My daughter was diagnosed with an 8.2mm cystic hygroma during the 12 week nuchal scan. We were devastated and were told that we would likely lose the baby. We immediately had a CVS that determined that there was no genetic cause. We decided to wait until 17 weeks for a follow up ultrasound that revealed that the hygroma had spontaneously resolved. We than had a level 2 ultrasound to check for cardiac deficiencies that also came back clean. My daughter was born a beautiful and healthy ten pounds. She is perfect in every way. She has a little excess skin on her neck from the hygroma that it seems she will grow into on her own. I am posting to give other parents hope because it was impossible to come by when we went through our ordeal. I realize that not every situation will have a positive outcome but it CAN happen because it did for us. I wish you all the best.

   

• At Wed Feb 06, 05:21:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To KB Feb 5: Thank you for sharing your story. It will be encouraging to many others who are in you situation. There is always HOPE! Dr T

   

• At Wed Feb 06, 08:50:00 PM 2008,  Anonymous said…

  Hello Dr. My name is MeiChing. My good friend is having her baby #5. mom is about 3 months. Was told that her baby has a couple of cystic hygromas from the top back of the baby's head to the middle back. The heart has several problems like a hole, one side is larger than the other (which the larger side is beating faster), and the blood flow to the heart is not flowing right. also found out that the baby's stomach is on the wrong side. received the full report back and some GOOD NEWS--ALL 46 Chromosomes are there. the baby does not have have Trisomy 13, Trisomy 18, Down Syndrome and Turner Syndrome. we are thankful for that.
  My question is this. With the cystic hygromas, heart and stomach issue. Is there any repair that the doctor can do while the baby is in the womb.

   

• At Thu Feb 07, 06:10:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Dr MeiChing: The cystic hygromas are probably the consequence of the cardiovascular (and perhaps lymphatic) malformations. This is more of a problem than can be safely handled by any intrauterine operative procedure at this time. From what you have told me, there is a very high likelihood the baby will succumb prior to delivery. I am so sorry. You might check with one of the major fetal surgery centers such as the Children's Hospital of Philadelphia or the University of Califormia Medical Center at San Francisco. Thanks for reading. Dr T

   

• At Fri Feb 08, 06:42:00 AM 2008,  Anonymous said…

  I posted recently on Jan 10 (almost 33) I just wanted to update you in the hopes that this may be helpful. After we had spoken to the genetic counselor we decided to not do a CVS but wait to an amnio. We then had an u/s which showed our baby had passed away. I had expected this. The doctor there recommended doing a CVS then but I refused. Actually, in retrospect, I wish they had done an amnio then seeing as complete drainage of the fluid would obviously not be an issue. But I had not thought of it. The next day we had a D&C so that the baby could be tested. I was fully prepared to hear the baby had a chromosomal issue - likely Turner's. Today I found out that the test revealed the baby was normal. At least with it's chromosomes. This has stunned me and I am wondering what else could cause this now. I worry that I gave the baby listeria or toxoplasmosis (we have a cat but she is never outside ever) or spina bifida which we have a slightly higher risk of. An Amnio would have given us more info. Obviously, I cannot blame myself because I would never knowingly do this! But I do want to do my best to not have this reoccur.
  
  I also wonder. I have two healthy girls and this little one was the boy we had been praying for. Can these issues be something specific to the sex of a baby?
  
  Thank you for any info and may this be an indicator that sometimes, it just happens :(
  
  Laura

   

• At Thu Feb 14, 05:43:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Laura Feb 8: I am so sorry for your loss. It is unlikley the amniocentesis would have given you any more information and if you lost a chromosomally normal baby after having had it done, you might have thought the amnio caused that problem (even though you knew the baby was already in trouble). It si also VERY unlikely that listeria or toxoplasmosis caused this loss. the most common infectious organism under these circumstances is cytomegalovirus (CMV). There is a chance the baby had a significant heart malformation or a syndromic or genetic problem (even though he had the right number of chromosomes). We cannot rule out the possibility of an X-linked condition in a male child, but it may be difficult to find out what that might be unless there are some particular abnormalities of the baby you lost or a family history that might lead us to the correct diagnosis. A good genetic counselor can explain these things to you. Again, I am sorry and my thoughts are with you all. Best regards, and thank you for sharing your story with us. Dr T

   

• At Fri Feb 15, 06:35:00 PM 2008,  Anonymous said…

  i am 35.
  i had a nuchal translucency done at 11 weeks and 3 days. they discovered a 3 mm thickness and i was diagnosed with cystic hygroma.
  doctor said that there was a very high chance of chromosomal abnormalities.
  today i had another ultrasound and they measured the thickness of the skin again and it showed only 1.54 mm. im now 13.4 weeks pregnant. doctor said the cystic hygroma dissapeared.
  
  the doctor said that this is great news but i do not want to risk anything and give birth to a child which will not be ok.
  my husband's uncle had down's syndrome. i will be 36 in june. i had one misscarriage in the past which happened at 7 weeks of pregnancy and that was in June 2007
  
  i am scheduled for amnio at 15 weeks.
  questions:
  = since cystic hygroma is no longer there at 13.4 weeks have the chances of having an abnormal baby decreased or not?
  - does it matter that my husband's uncle had Down's syndrome? can this affect my baby?
  -what would you recommend to be the next step?
  
  thank you so much. i am so grateful that you are here to help us. thank you from my heart!

   

• At Sat Feb 16, 12:36:00 PM 2008,  Anonymous said…

  Dear DR. T,
  I am 28 years old and pregnant for the 4th time. The first 2 pregnancies were chemical and ended quite quickly. The 3rd time the baby was diagnosed with cystic hygroma at 12 weeks and I was convinced to terminate the pregnancy. Unfortunately, following the abortion, they were not able to tell me whether the cause of cystic hygroma was chromosomal or genetic because the results were contaminated. I would like to know the odds of this occuring again, both genetically and chromosomally. I cannot wait until I am 12 weeks pregnant to find out again. Is there a way to test whether my husband and/or I are genetic carriers? I will appreciate any advice or recommendation you could provide for me. Thank you in advance!

   

• At Thu Feb 21, 05:50:00 AM 2008,  Anonymous said…

  Dr T,
  We went for our 12 week OSCAR test and got result of 7mm nuchal thickness. Blood results seemed normal. We followd up with CVS, with both rapid and 10 day tests showing no chromosmal abnormalties. Our Doc has still given us only a 10-20% chance of delivering ahealthy baby. Our next step seems to be to
  a)rule out thalassemia (one of us thasemia minor and one not)although apparently there are types of thalassemia that are more difficult to detect. Is this possible?
  b) Heart scans at 18 weeks
  c) Hope for the best
  Are these rightly our options and likely outcomes? Given that chromosomal issues have been ruled out, does that increase our chance of a healthy child? The doc has also suggested a scan next week (3 weeks since OSCAR) to reassess nuchal thickness.Is this a useful diagnostic test at this stage? Many thanks, Worried.

   

• At Fri Feb 22, 05:13:00 PM 2008,  Betsy said…

  Hi Doctor, My sister went for her 1st trimester screen on Monday and the doctor said her baby had a 5.1mm nuchal fold/cystic hygroma. Today, Friday, she went into Boston for a CVS test and the doctor at Tufts said that the measurement was 3.1mm, a 2mm difference. My questions are: 1) What is the difference between an increased nuchal fold and a septated cystic hygroma? 2) Could it be possible that the hygroma is resolving itself? The baby's heart rate on Monday was 150bpm and today 164bpm, so the heart appears strong at this point. The baby also has a nasal bone. Does this sound like Turner's Syndrome? My family is devestated for her, but the fact that the hygroma is 2mm smaller today is promising, isn't it? My sister is 36, super healthy and her husband is 37. My heart aches for them because this is their 1st baby and it took them so long to conceive. Your thoughts and knowledge are much appreciated. Thank you. Betsy

   

• At Thu Feb 28, 05:09:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Feb 15: There is a possibility that the NT was incorrectly measured at 11 weeks. It is easy to confuse an unfused amnion with the nuchal skin border at that point. Your husband's uncle's Down syndrome is vfery unlikely to increase your risk of a chromosomally abnormal baby. Since you have been 'scared to death" and are worried about having a baby with aneuploidy, an amniocentesis at 15-16 weeks is probably the 'right' thing to do for you. They may also be able to get an appreciation for the presence of other fetal abnormalities that might n=be associated with a chromosomally abnormal baby. If not then, a 'targetd' genetic ultrasound at 18-20 weeks is certainly indicated. I bet everything is going to turn out just fine in your case, but please let us know, regardless. Best of luck! Dr T

   

• At Thu Feb 28, 05:16:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Feb 16: At your age there is a very good chance that the next baby will be normal and that the last baby simply had a chromosomal abnormality. It is exceedingly difficult to screen for a "genetic" abnormality unless there is a family history (or a previous baby) with the same because there are SO many. You and yiur husband could have your own chromosome studies done to look for a chromosomal rearrangement such as a balanced translocation, but that is expensive and probably of low yield in your case. My suggestion is that when you get pregnant again, have the blood work for the first trimester screening sent at about 10 weeks and then follow-up the next week with the NT measurement. Usually you can get a risk result the SAME day by doing that, and if the NT is normal and the risk assessment is reassuring, you should sleep a lot better without having an invasive diagnostic study performed. Thanks for reading! Dr T

   

• At Thu Feb 28, 05:21:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anaonymous Feb 21: I will often offer a repeat ultrasound at 15-16 weeks because sometimes major abnormalities of the heart and other structures can be identified at that time. Even if that is normal, and the baby is growing well, you will need a 'targeted' scan at 18-20 weeks that includes a detailed evaluaton of the fetal heart. If all that looks good, and your baby continues to grow normally, you have a reasonably good chance a a good outcome because the baby appears also to be chromosomally normal. Hang in there and let us know what happens, please! Best wishes. Dr T

   

• At Thu Feb 28, 05:27:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Betsy Feb 22: This could be Turner's, Down syndrome, another chromosomal abnormality, a congenital anomaly, or a NORMAL baby at this point. She is at incresaed risk for aneuploidy because of her age. Simple widening of the NT has a lower risk for chromosmal abnormality that a septated cystic hygroma (probably > 50%). Regardless, she had the CVS done. We all will be pulling for her. Please let us know what you find out. Dr T

   

• At Sat Mar 01, 09:43:00 AM 2008,  Anonymous said…

  I'm in the UK.
  
  On Thursday we had a scan that revealed a NT of 7mm and we were told that the baby also had a hernia in its tummy.
  
  We have opted to have CVS on Monday 3rd March - if we have good results from this, what do you think the chances are for a normal heathly baby at the end?
  
  This is my 2nd pregnancy, first ended in June 07 but we don't know why - we found out at the 12 wk scan that the baby died at 11 weeks.
  
  Emma

   

• At Tue Mar 04, 12:21:00 PM 2008,  Anonymous said…

  Hi Doctor-
  
  We found out that my sisters CVS test results were negative for any chromosome problem...thank GOD! So she will be going to her regular doctor this week for an ultrasound to see if the hygroma has gone down and then I think around 18 weeks she will go for a fetal echo test to check the heart. Do many fetuses with hygromas of 3.1mm do well? Do many have heart deformaties? What else could we be facing here if the heart looks ok?
  Thanks for your reply. Betsy

   

• At Tue Mar 04, 07:27:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Emma Mar 1: If what you have told me is accurate, there is a very high risk your baby has trisomy 18 or a syndromic problem. If that is the case, with your history of a previous loss in first trimester of unexplained cause, you might consider having chromosome studies done on both you and your partner to see if one of you has a 'balanced translocatio' or other chromsomal rearrangement. Please let us know the results of the CVS and best of luck to you both. Dr T

   

• At Wed Mar 05, 10:03:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Betsy Mar 4: If the baby is chromosomally normal and has a nonseptated 'cystic hygroma', I think the chances are very good the baby will do well. There is always the possibility of a syndromic problem, but if the heart checks out fine at the time of the fetal echocardiogram, why don't you help your sister just to RELAX the rest of the pregnancy. I am pulling and betting that everthing will be fine! Please let us know. Dr T

   

• At Wed Mar 05, 12:00:00 PM 2008,  Anonymous said…

  Hi Doctor-My sister's fetus has a septated cystic hygroma, not a nonseptated ch. What is the difference? Also, what are the chances that her baby will be fine since the CVS test came back normal? Yes, we are going to try to help her relax! We are scheduling a trip to the spa in the next couple of weeks (I am pregnant as well and had a 1:25 risk ratio for Downs just a month ago, so we are both pretty stressed out. I didn't have an amnio since the 2nd level ultrasound showed no soft markers for trisomy 21, although we will not know for sure until the baby is born, however I feel confident that the baby is healthy). Thanks for your reply. Betsy

   

• At Thu Mar 06, 10:34:00 PM 2008,  Anonymous said…

  Dear Dr. T.
  
  I am 40. I am 16 weeks with my 4th child. I am scheduled for a 2nd level u/s and consult with a perinatologist tomorrow. A couple of weeks ago, I thought I was 12 weeks based on my last cycle. However, I was measuring larger so I had an U/S to determine dates. The U/S showed I was 14 weeks. They also found a large cystic hygroma with edema(hydrops) of the skin. I don't think they told me the exact measurement of the C/H. I found out that my 1st son (no problems)had Fifth's disease when I was pregnant with my 2nd son which caused Encephalitis on the brain. They also found a cyst on the brain which later disapeared. I was given a 50% change of survival. My son is now 13yrs. He was born with a sebaceous cyst on the side of his nose and had been diagnosed with ADHD. I also have a 2 1/2 yr old daugher who was born with a sebaceous cyst on the back of her head. I am pretty sure she has ADHD as well. Both are very smart. I had gestational diabetes with all three. I am also RH negative. My questions are 1)Do you think that there could be any pattern with the sebaceous cysts / Cystic Hygroma? 2) I think my daughter had Fifth's disease during this pregnancy. Is it possible to get parvo B19 more than once? I'm wondering if the possible exposesure to parvo B19 caused the cystic hygroma and hydrops? 3) Or is it possible that my RH negative condiditon caused the hydrops? 4) Finally, I have been doing a great deal of reading about this condition and researched natural vitamin and herbal suplements that reduce edema. I have found that they have been sucessfull doing clinical studies on pregnant women in Europe with no ill effects on the babies using some of the same vitamin/herbal supplements to reduce hemoroids. The products I am considering taking are supose to reduce or eliminate edema and strenghthen veins. They are Diosmin & Hesperidin (Citris bioflavanoid), Horse Chestnut extract, and Butcher's Broom Extract. I found documentation from the FDA that deemed the bioflavanoids safe during pregnancy in the U.S. However the studies on the herbals were done in Europe and the Netherlands. I would greatly appreciate your comments and/or advice on all of my questions. I have also been taking dandelion leaf extract to try to reduce the hydrops. I was told it was perfectly safe during pregnancy. I am so surprised that no one is trying to do anything to reduce Edema (hydrops) since that seems to be the biggest concern/increases the changes of demise. Thank you so much!!

   

• At Fri Mar 07, 01:42:00 AM 2008,  Anonymous said…

  Hello again Dr T
  
  The results came back with my baby having Turners Syndrome.
  
  The Genetics Nurse told us that 70% of Turners babies miscarry between 12 and 40 weeks of pregnancy and because of the large swelling on the back of the next that there were likely to be other problems too like heart defects so her chances are even higher.
  
  I have to wait until I'm 16 weeks to get another scan to see if the baby has died, or has a heart defect or if the swelling has got bigger - 3 week of hell coming up!!
  
  Thank you for replying to me.
  
  Emma
  13 weeks today

   

• At Sat Mar 08, 04:15:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Betsy March 5: Septated cystic hygromas have a higher association with chromosomal abnormalities and a poorer prognosis overall than nonseptated cystic hygomas. There is still a small possibility the baby could have a chromoomal abnormality or a syndromic (genetic) problem despite having a normal number of chromosomes. Your sister's baby's outcome will depend on that, whether or not it develops hydrops fetalis (basically heart failure), or has a major structural defect (usually cardiac) that is independent of a chromosomal or genetic problem. I wish both of you all the best, thank you so much for writing, and, again, please let me know the outcome(s) for both of you. I learn much here from the readers who comment and stay in touch!
  Dr T

   

• At Sat Mar 08, 04:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Mar 6: Let me answer the questions as best I can in the order you asked them:
  
  1) The cystic hygroma is probably not related to the sebaceous cysts of your other children. It is much more likely at your age that the baby with the cystic hygroma has a chromosomal abnormality. The hydrops is not good and often is associated with loss of the baby in utero.
  
  The issue of the "sebaceous cysts" is interesting in its own right. Congenital sebaceous cysts (presuming the diagnosis has been confirmed by pathology) are unusual. In my review of the literature, I did find an association between congenital sebaceous cysts and a condition called 'familial adenomatous polyposis' (Bisgaard, et al., Am J Genet A 2006;140:200-4 and Cross, et al., J Med Genet 1992;29:175-9) and Gardner syndrome. You might want to discuss this with a good genetic counselor and see if there are any genetic studies that can be done to determine if the children have this condition.
  
  2) I doubt your daughter had Fifth's disease. It is unusual to get that twice.
  
  3) I very much doubt the current baby's problems are at all related to your Rh-negative status
  
  4) The edema is not just there as a disease entity in and of itself. Most of the time it is the result of fetal heart failure and there can be lots of reasons for that. Hydrops in the setting of cystic hygromas has a fetal loss rate that approaches 100%. I would be very cautious of any herbal preparations to try to treat this yourself. One of the problems with over-the-counter herbal preparations is that they are not standardized, may vary from batch to batch and compant top company, and may contain products and impurities other than those listed on the bottle. Most of the ones you have mentioned should not have a deleterious effect on the pregnancy, but again, you may not really be sure what it is you are taking into your body.
  
  Best wishes to you and thank you for some excellent questions! Let us know how things turn out and what you learn about the other children who were born with the sebaceous cysts!
  Dr T

   

• At Sat Mar 08, 04:37:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Emma Mar 7: Emma, I am so sorry for what you are going through. If the baby does not develop hydrops (heart failure) and does survive, she might turn out better than you expect. I have cared for many young women with Turner syndrome and even some who have managed to get pregnant as the result of the remarkable things done by infertility specialists today. Best of luck to you. We will be thinking of you so please, let us know what happens. Dr T

   

• At Sun Mar 09, 08:35:00 AM 2008,  Anonymous said…

  Hi Dr. T -
  I turned 41 in November. I went for a 1st trimester ultrasound last week, at 11w3d (baby due in September). The doctor said the nuchal fold was 2.5mm but that it looked "thick" to her and it could be a cystic hygroma, but she wasn't sure. She said she couldn't tell from the ultrasound if it went all the way down the back or not, but it might. She made no mention of septation and I don't think they did an ultrasound from an angle that would identify that. The baby was up against my placenta and the technician had a hard time getting the nuchal measurements -- lots of turning and jiggling the baby. The doctor has recommended that I do CVS or amnio and acted like something was probably wrong. She referred me to someone to do CVS as she does amnio but not CVS. She mentioned no other markers, but it did appear that the baby has a nasal bone (comparing to 2nd trimester ultrasound of my healthy 18-month old daughter). No blood work was done. My husband and I had genetic testing done prior to our daughter being born in 2006 and everything turned out fine.
  A couple of questions -
  How do you know if it's a cystic hygroma or just enlarged nuchal translucency? Does the 2.5 size matter in diagnosing cystic hygroma? Should I get a second opinion or go ahead with the CVS (chance of miscarriage scares me somewhat)? This doctor really scared me and from what I have read since, 2.5 doesn't seem like a large reading - am I wrong? Do you think my age plays a large part in this "diagnosis"?
  What would you recommend in this situation?
  Thanks so much-
  Andrea

   

• At Sun Mar 09, 03:38:00 PM 2008,  Anonymous said…

  Hi Dr. T -
  I turned 41 in November. I went for a 1st trimester ultrasound last week, at 11w3d (baby due in September). The doctor said the nuchal fold was 2.5mm but that it looked "thick" to her and it could be a cystic hygroma, but she wasn't sure. She said she couldn't tell from the ultrasound if it went all the way down the back or not, but it might. She made no mention of septation and I don't think they did an ultrasound from an angle that would identify that. The baby was up against my placenta and the technician had a hard time getting the nuchal measurements -- lots of turning and jiggling the baby. The doctor has recommended that I do CVS or amnio and acted like something was probably wrong. She referred me to someone to do CVS as she does amnio but not CVS. She mentioned no other markers, but it did appear that the baby has a nasal bone (comparing to 2nd trimester ultrasound of my healthy 18-month old daughter). No blood work was done. My husband and I had genetic testing done prior to our daughter being born in 2006 and everything turned out fine.
  A couple of questions -
  How do you know if it's a cystic hygroma or just enlarged nuchal translucency? Does the 2.5 size matter in diagnosing cystic hygroma? Should I get a second opinion or go ahead with the CVS (chance of miscarriage scares me somewhat)? This doctor really scared me and from what I have read since, 2.5 doesn't seem like a large reading - am I wrong? Do you think my age plays a large part in this "diagnosis"?
  What would you recommend in this situation?
  Thanks so much-
  Andrea

   

• At Fri Mar 14, 02:17:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Andrea Mar 9: It's hard to say what's right under these circumstances, Andrea. At your age you are very high risk for having a baby with a chromosomal abnormality. However, if I had gotten that NT measurement (and I am not even sure it was an accurate one from what you describe) on a younger woman, I would not have recommended proceeding directly to CVS. I would have suggested that she have the maternal serum markers sent and then decide what to do based on that test result. Again, at your ae, that NT often does place you at at "at risk" level and many women will forego any indirect testing and have a CVS done as the first-line approach. Discuss your options again with the doctor who will be performing the CVS before you make your final decision. The baby may be in a better position so that an accurate NT measurement can be obtained. Anyway, I wish you luck and please let us know what you do and what you find out! Dr T

   

• At Mon Mar 17, 07:10:00 AM 2008,  Anonymous said…

  From Andrea Mar. 9 -
  Hi Dr. T. We had the CVS and it came back negative for any chromosomal abnormality. We were very relieved. The doctor doing the CVS did not seem alarmed and told me he did not think it was a cystic hygroma, so we were relieved by that even before the CVS. I think my age was a big factor in the recommendation to have CVS. I hope everything else goes well with this baby from here on out!
  Thanks -
  Andrea

   

• At Wed Mar 19, 07:01:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Andrea: Congratulations and best wishes for the rest of the pregnancy. Let us know how things turn out! Dr T

   

• At Fri Mar 28, 06:39:00 PM 2008,  Anonymous said…

  Hi Dr. T. I am 30 years old and about 12.5 weeks pregnant. My doctor tried to hear the heartbeat at 12 weeks and couldn't hear it, so she suggested u/s to determine age. I went to have the u/s and we heard a strong heatbeat and saw the heart beating. The u/s technician expressed a concern for some thickness around the skull. My doctor has suggested I go and see an u/s specialist / genetic counselor in a week. I am a little concerned because if it's something serious why would she make me wait a week to get in to see the specialist. Also, does thickening around the skull indicate Nuchal Translucency or Cystic Hygromas. Also, the u/s technician says the fetus is the size of a 14 week fetus but I am 100% percent sure the fetus is only 12.5 weeks. Would this also indicate Chromosomal issues?

   

• At Thu Apr 03, 06:32:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Mar 28: I cannot tell what, if anything, might be going on with your baby. See what the specialist says and then let us know. Sorry I can't be more help right now. Good luck! Dr T

   

• At Wed Apr 16, 02:41:00 PM 2008,  Anonymous said…

  Hello Dr. T. my name is Ashley, im 23 and I am 11 weeks with my 2nd. My first is 15 months and as healthy as they come and advanced for her age. At u/s to determine age they dicovered a cystic hygromas and sent me to a maternal/fetal specialist 2 days later (today) They never told me the size of the c/h, however the u/s pics look better than even 2 days ago. The Dr. did an amneo and I should get a call friday. With my husband and I both being younger than 25 what are the odds of it being a genetic disorder? The only things the Dr. told me were downs, turners, heart problems, fetal death or it could be nothing. We are feeling left in the dark with all of this and wishing someone could give us a little bit of hope considering our age and if the c/h goes away what are the odds of having a healthy child.
  Thanks so much, Ashley

   

• At Sun Apr 20, 06:31:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Hi Ashley: I hope that "it could be nothing." You should get the results back soon and please let us know what you find out. I think it is encouraging that the "cystic hygroma" already looked better on the subsequent scan We will all be pulling for you. Best wishes. Dr T

   

• At Thu Apr 24, 11:30:00 AM 2008,  Anonymous said…

  I am 16 weeks pregnant and my husband and I received news that our 13 week u/s came back with finding of septations in the baby's neck, but the NT measurement is only 1.8mm. They scheduled a level II ultrasound with a perinatologist to take a closer look. Should I still be concerned that there are septations present, but the NT measurement is only 1.8mm? Originally my Dr. said he wouldn't be concerned and it could resolve on its own. But, it's hard not be be concerned about it.

   

• At Thu Apr 24, 03:26:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 24: In all honesty, I have never seen a septated cystic hygroma with a nuchal translucency of only 1.8mm. Why don't you wait until you have seen the MFM specialist and then let me know what you find out and are told. I am here to learn too and maybe it really is nothing to worry about. Best wishes. Dr T

   

• At Sat Apr 26, 12:21:00 AM 2008,  Anonymous said…

  Hi Dr T
  We originally posted a comment on Feb 21 (anonymous - 7mm NT at 12 weeks; CVS normal). I've been monitored very closely over the last couple of months. A repeat scan at 14 weeks showed the NT reduced to 2mm. Fortnightly scans have shown normal development and a very active baby. A very detailed Level 2 ultrasound analysed by 3 different doctors (including a MAternal Fetal medicine specialist) last week (at 22 weeks) showed normal development with no apparent anomalies of the heart or anything else.....
  We've been given a very good prognosis now of delivering a healthy baby, but would be keen to hear your opinion on prognosis and possible reason for initial elevated NT. Many thanks for your time.

   

• At Wed Apr 30, 06:24:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Apr 26: Great! Things are looking better every day! Please let us know how things go and thanks for the feedback. Dr T

   

• At Thu May 15, 11:12:00 AM 2008,  Anonymous said…

  Dear Dr,
  
  What wonderful site – thank you!
  
  My wife and I are working in Qatar and the medical care we had there is questionable. The doctor kept looking the information up on Google and telling us he hadn’t seen anything like it before!
  
  Basically the doctor in Qatar found a large cystic hygroms and said the child could have Down’s syndrome and we should do an amnio back in the UK however there was a 3% risk of miscarriage.
  
  We got back to the UK yesterday, my wife isn’t British and cant use the national health and we couldn’t get a referral from a GP for BUPA for a couple of weeks so we decided to go to Harley Street.
  
  We were lucky enough for the doctor there to make some time for us at short notice, the doctor yesterday said that the baby had an abnormal heart and there was a 90% chance of miscarriage. The CVS results issued today indicate the baby is chromosomally normal. I’m not sure if this is a good or bad thing.
  
  We are now stuck in a hotel and cannot get to see a doctor here again – we just can’t afford more Harley street consultations.
  
  Am I right in assuming that the cystic hygromas were caused by the abnormal heart? Could this be genetic? My father died aged 42 of a heart attack.
  
  How do we go about testing ourselves for genetic disorders, is this now required? Also, if this is genetic, I am correct in thinking that the chances of a reoccurrence are higher than if the cause was chromosomal?
  
  We have decided to go ahead with a termination on Saturday – even if the baby did survive, we see no quality of life and a life filled with pain for the baby.
  
  Could the clinic where we have the termination further define the cause of the abnormal heart?
  
  This is such a painful time as we have been trying for 5 years to have a baby! And had one miscarriage where no foetus formed.
  
  Again, thank you for the site and taking the time to help people.

   

• At Fri May 16, 03:14:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous May 15: I am so sorry. You have certainly been through a lot. If the baby has a major congenital heart defect that could certainly have caused the cystic hygroma even if the baby is chromsomally and genetically normal. Congenital heart defects are multifactorial in etiology in many cases, but there is an increased chance of having another baby with the same or another cardiac malformation. There are a specific chromosomal abnormalities and genepolymorphism that increase your risk for congenital heart defects, but I suggest you find a good genetic counselor to discuss your options for diagnosis of these. Taking the mulyiplicity of factors that can contribute to congenital heart disease, the actual risk of a 'recurrence' varies between less than 5% to more than 25% depending on the cause. Ask the doctors who terminate the pregnancy to send the baby to pathology with the specific question being to evaluate what they can of the baby's heart. I know this has been hard and I am so sorry. Give my best to your wife and kind regards, Dr T

   

• At Mon May 19, 05:52:00 AM 2008,  Anonymous said…

  Dear Dr,
  I am 23 weeks along in my pregnancy. I was told at my 20th weeks my baby has a cystic hygrom and fluid around her lungs. I had an amnio done and the tests came back negative. Each week the fluid keeps increasing and this past week they discovered more fluid in her stomach. She is still growing and her heart beat is healthy. I am struggling because I was basically told that she probally would not make it. I guess I am just looking to see if there is any hope my baby could survive the rest of the pregnacy or if there is anything that can done to help her.

   

• At Mon May 19, 11:56:00 AM 2008,  sister said…

  Dr T
  My sister is just about 13 weeks pregnant and last week was told at her u/s that she had a increased nuchal fold. Today she went in for another u/s and an amniocentesis and a cystic hygroma was mentioned. She wasnt told how large the nuchal fold was. Would they have done an amnio if it wasnt infact a cystic hygroma?? What I have read on cystic hygromas hasn't been all the promissing. My sister and her husband are very young, just 21 and 25,and are completely healthy.
  What are the chances of everything turning out ok if all tests come back negative? She has had spontaneous bleeding in the last week or so...could this be a symptom?? Please help...

   

• At Mon May 19, 04:42:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous May 19: What tests other than the fetal chromosomes did they do on the amniotic fluid? Have they seen any congenital malformations of the heart or chest? Any evidence of fetal anemia, immune or nonimmune? Any evidence of congenital infection with cytomegalovirus or toxoplasmosis? The real hope for the baby lies in whether or not there is a correctible etiology to the heart failure - for example, severe anemia is correctible. If not, then the prognosis is indeed very poor. I know this is very hard, but hang on to your hope. Sometimes miracles happen. I wish you the best and please let us know. Dr T

   

• At Mon May 19, 04:56:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To sister May 19: About half of all baies with cystic hygromas have a chromosomal abnormality. The prognosis for the baby depends on the cause of the cystic hygroma and whether or not the baby goes into generalized 'heart failure' (hydrops fetalis). Only 10-15% of babies with hydrops will survive. When they know more about what might be causing the baby's problems, please let me know and then I can give you my thoughts. BEST WISHES TO YOUR SISTER..Dr T

   

• At Thu May 22, 11:03:00 AM 2008,  Anonymous said…

  I found this page by googling and I had to post my positive story to give those of you in this terrible stressful time some hope. Five years ago, on a routine ultrasound at 12 weeks, our son was diagnosed with fetal cystic hygroma. We were immediately referred to an MFM specialist at a major teaching hospital. We had a CVS, the restults of which were normal. We were counseled with the grim odds some of you were. We were told, in an offhand manner, that we didn't have to worry about Turner Syndrome since the fetus was a boy. That's how we found out our son's gender, and at the time we were so pathetically grateful for some good news we didn't mention that we hadn't wanted to even know his gender. It didn't seem to even matter then anyhow. Our doctor was fairly pro-termination, given the odds. So we scheduled an appointment with the doc who would perform the termination. He was in the same practice as my ob. And at that appointment, he was the first doc who gave us any hope at all in the process. He did a quick ultrasound and said the CH seemed to have gone down since the initial finding. He said that we could keep the apt (a week out) on the books, but to wait and see. Wait we did, and a week later, it had gone down some more. We canceled the termiation, and were cautiously optomistic. A few weeks later, they did an EKG on the fetus, and the results were fine. I was seen by the MFM clinic for the rest of the pregnancy, but the CH had resolved on its own by 18 or 19 weeks. And three days after my due date, the OB who we had scheduled to terminate the pregnancy was on call and delivered our son - who is and was perfectly, 200% healthy. No neck webbing, nothing wrong at all. He is a beautiful, althletic, funny child.
  It scares me to death that we were counseled to terminate the pregnancy. Of course I know that there are many who do not have the positive results we do, but I also think there are many who are pressured by the unknowns into terminating their pregnancies. I hope that our story can give hope to some who feel there is no cause for it.
  Katherine

   

• At Thu May 22, 11:33:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Thank you for sharing with us Katherine. I am sure that many readers here will appreciate your remarks and take them to heart during their difficult times for decisions under these circumstances. In my old age, I am more in line with letting nature take its course when there is any reasonable doubt about the predicted outcome! One should never feel compelled to take away hope where there is some! Regards,
  Ken

   

• At Thu May 22, 01:39:00 PM 2008,  Anonymous said…

  I am 25 years old and both me and my husband are healthy with no family history. Last week I went for my first trimester screening (for no reason) and my baby had in increased nuchal transluceny of 4.7 and the doctor mentioned it was consistent with a cystic hygroma. (I believe septated) I had the CVS done and are awaiting the results. In the meantime we got the FISH results back and everything came back normal. This was big sigh of relief however I was then told that there was a 70-75% chance there was something else wrong with my baby. That is a high percentage, can this be right? I was told to wait until I am 18-20 weeks to do a Fetal echocardiogram. is the pronosis as grim if the cystic hygroma resolves? This news has been all I can think about and am hoping for maybe some answers/information.
  
  Thanks,
  Stephanie

   

• At Sat May 24, 08:51:00 AM 2008,  E.M. said…

  Hello Dr. T,
  
  I am 30 years old, healthy, and am currently 15w5d into my first pregnancy. At 14w4d a cystic hygroma was found on our baby's neck during a routine ultrasound. We had amniocentesis done at 15w1d and the rapid test results show no chromosomal abnormalities. As of yesterday (15w4d) an ultrasound shows no visible structural malformations. The hygroma measured 7mm and the perinatologist thinks that it may have gone down slightly since the ultrasound the week before. Thus far, there is no evidence of hydrops.
  My partner and I had decided initially to terminate the pregnancy, but we're having a harder time coming to a decision considering the feedback that we're receiving regarding this baby. We understand that even with no evidence of chromosomal abnormalities, the odds are around 83% that this baby will not be born with a normal pediatric outcome.
  My questions to you are: does the prognosis for our baby improve beyond 15-20% given that at almost 16w there is no evidence of structural abnormalities?
  Secondly, what are the odds that an abnormality that is prenatally undetectable presents itself at/after birth? Finally, if the CH does not resolve by 20 weeks, does the prognosis become more grim?
  Thank you very much for your help. We are in a small town in Canada and even the specialist has very limited experience with CHs.
  Erin

   

• At Mon May 26, 12:11:00 PM 2008,  Anonymous said…

  Dr,
  
  On the 15th May you responded to my post - Im the guy working in Qatar.
  
  Ive been some time in replying.
  
  I just wanted to say thank you so very much for taking the time to write on this site.
  
  No question, you help a lot of people who are desperate.
  
  Ive been through a war, Ive been robbed, stabbed,impirsoned and all manner of other nasty things things in my life. Never have I experienced as much pain as I have over the last three weeks.
  
  Doc, I hope you realise that just a few words means so much to your readers.
  
  My wife is Buddhist, she cant write English but she said to say that she won't say at prayer at the temple for you ........ your karma is great already.
  
  Thank you!

   

• At Tue May 27, 05:42:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Stephanie May 22: This is one of those situations where we take things one step at a time. The first good news is that the FISH results were normal (and for readers who do not know what that is, it is a rapid screen for the most common chromosomal abnormalities but does not test for ALL chromosomal abnormalities). If the final chromosome studies are also normal, you have passed another major milestone. The next step will be to evaluate the baby's anatomy, especially, the heart and thorax. That can be attempted as early as 16 weeks, but may require additional sonograms to rule out or confirm an abnormality. Babies with heart abnormalities can be perfectly normal chromosomally and genetically or the abnormality can be part of a syndromic problem. At this point do not give up hope. Having a baby that appears to be chromosomally normal is very important with regard prognosis. Keep us informed as you learn things because there are many other readers who will benefit from what you are going through right now. Our thoughts and prayers are with you. Dr T

   

• At Tue May 27, 05:52:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Erin: The prognosis of course depends on what is causing the cystic hygroma. The rapid chromosome results were reassuring and hopefully the final results will be as well. So far the baby has no visible abnormalities other than the cystic hygroma and it does not have evidence of hydrops (heart failure). And, the CH may be getting smaller. All those things weigh into the prognosis and improve the odds the baby will do well and if the detailed evaulation of the baby's heart and thorax also turn out fine, I believe your baby has a better than the 17% chance of a "normal outcome." Please read Katherine's comment from May 22 and do not give up hope yet. We will all be pulling for you. Please let us know how things turn out and thanks for writing. Dr T

   

• At Tue May 27, 05:54:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To my friend from Qatar: Your comment brought tears to my eyes. Thank you so much and blessings on you and your wife. Dr T

   

• At Fri Jun 06, 12:02:00 PM 2008,  David said…

  Dr T.,
  
  I am 29 and my wife, 25, if 21 weeks pregnant. We had an NT scan at 12 weeks which was normal but at the 20 week ultrasound a lump was found on the neck which has since been diagnosed as cystic hygroma.
  
  We also had a heart ultrasound done which revealed an enlarged right ventricule but other than that the heart seems fine. The cardiologist suggests that it it due to a narrowed aorta. Also, we have been told that the kidneys seem abnormally dense on the ultrasound.
  
  We got the FISH results which were normal and are still waiting on the full results. We are really bothered because at the hospital, each specialist seems to individually say he can fix the problem. For example, they can drain the CH at birth and can perform surgery to eliminate the narrowing of the aorta.
  
  However we feel that no one if giving us the bigger picture. There has to be some connection between these problems right? Can we really expect that there is no underlying problem and with these 2 interventions at birth our boy will be perfectly healthy? We are scared of loosing him but also scared that the doctors are candy coating the news a little bit for now. Should we just let the pregnancy progress or are we right to assume that at the very least this baby will have major health issues.
  
  Thank you so much for you answer,
  
  David

   

• At Sat Jun 07, 10:17:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  David: Even if the baby is chromosomally normal, he/she could still have a genetic problem or syndrome that might tie the different findings together. I think, if you have not already done so, you need to have a little chat with a good genetic counselor to see what they think of this combination of findings. Best of luck to you and let us know what you find out. Dr T

   

• At Sat Jun 07, 04:43:00 PM 2008,  Joan said…

  My daughter was told she was carrying triplets when she was about 7 weeks and everything looked fine. Babies A and B are identical in separate chorionic sacs. By her second ultrasound a few weeks later she was told by the perinatologist that baby B had a Cystic Hygroma of 4mm and she was given a doom and gloom diagnosis. She was told that baby A probably had a CH as well, although it did not show on the ultrasound. The Dr. said that baby C was fine. At her next ultrasound she was told that the CH was smaller. Her regular OB/GYN says not to worry, that everything seems good to him although he only spoke to the other Dr. by phone and did not see the ultrasounds. Naturally, she is worried about all three babies. Would baby A definitely have a CH as well since they are identical? Also, what are the chances that it was not a CH after all since it was so early when it was diagnosed and what are the risks to baby C? She is going to get a second opinion soon just to ease her mind. Thank you for your response.

   

• At Sat Jun 14, 10:34:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Joan: I have the distinct disadvantage of not being able to see the ultrasounds - so my answers may not help much. Even if babies A & B are identical twins, and therefore, have the same genetic background, there can still be differences in how they develop. For example, if they are chromosomally abnormal, then they may not necessarily have the sme birth defects or cystic hygromas. Also, twins (especially identical twins) are at higher risk for congenital abnormalities (i.e., cardiac defects)and a condition called twin-to twin transfusion syndrome that might be associated with cystic hygromas even if they are chromosomally normal. So, the first thing you need is someone to better explain what they have found and what can be done to determine the babies' status. If that requires a "second opinion" then I would encourage you to get it. Please let me know what is found! Best wishes. Dr T

   

• At Mon Jun 16, 10:26:00 AM 2008,  Anonymous said…

  DR.,I went for my first trimester screeing last week and the doctor found cystic hygroma, .38cm, behind my baby's neck at 12wks and 5days. My doctor mentioned that the baby will not make it to full term and that I have basically two options. First option is to wait and see, in other words, wait untill the baby passes or terminate my pregnacy. I am at a complete lost either way. Does the size of the fluid matter in determing survival? Please help, I need some advice, anyone.

   

• At Mon Jun 16, 02:34:00 PM 2008,  jamieandheatherscruggs said…

  Dear Dr. T, My baby was diagnosed with cystic hygroma and fetal hydrops at 14 weeks gestation. I was told it was likely a girl and turner syndrome with a grim prognosis. At 18weeks my babies heart had stopped and went in for an induction. On the day of my induction, the maternal-fetal specialist called and said the amniocentesis was negative for a chromosomal abnormality and we were having a boy!! That was a month ago. At first the pathologist said it was Noonan Syndrome. However, last week we found out the babies heart was normal with no defects. How likely is Noonan Syndrome with no heart defect? After researching Noonan, I believe I may have passed it on to my child. I myself have HCM, short stature, easy bruising (no clotting disorder though), had holes in my eardrums and chronic infections, lazy eye (surgically corrected as a child), multiple birth marks on the right lower half of my body, and don't ovulate (conceived on the first round of clomid). I know you can't diagnose but is it possible that all that is a coincidence and I am without a genetic disorder? My husband and I have an appointment with a geneticist in August but I desparate for some kind of answer. I don't know what to do with myself. It is impossible to plan our future without a diagnosis. Do you have any info on how well pregnancy is tolerated in women with Noonans if we were to do egg donation or something? Thank you!!

   

• At Mon Jun 16, 04:58:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 16: Actually, your first step should be to decide wheter or not you want to find out if the baby is chromosomally norml bu either chorionic villus sampling or an amniocentesis (depending on how far along you are in the pregnancy). A cystic hygroma of only .38 cm in most cases is not a "death sentence" at this point unless the baby is grossly hydropic or has a lethal chromosomal abnormality. I think you need to ask for a referral to a specialist in Maternal-Fetal Medicine as soon as possible to discuss all of your options. Dr T

   

• At Mon Jun 16, 05:24:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jamie and Heather: You may have Noonan's or some other syndromic problem that has "variable penetrance", but the VERY FIRST step is for you to discuss your situation with a good geneticist. He/She will need to carefully gather family history, the findings from the baby you lost, and examine both you and your partner. I am sorry for your loss and I wish you did not have to wait so long to see the Geneticist, but that is your best bet for good information. Get back with us afterwards and let us know what the geneticist thinks. Kind regards, Dr T

   

• At Wed Jun 18, 09:44:00 AM 2008,  Dad and Mom said…

  Dr., I just found this blog and wanted to extend my heartfelt condolences for all that are going through these difficult times. My wife and I have been going through much of what is being talked about here.
  
  Our series of events started when my wifes quad-screening came back abnormal (16 weeks). We went to talk to a genetic counselor and to have a follow up U/S and amnio. The ultrasound not only showed 3 distinct macrocystic hygromas, but pleural effusion and ascites, as well. Judging from the reaction of the U/S tech., who ran out of the room to get the neonatologist, we knew the news was grim. We were told, in not so many words, that the baby would not survive and that they were sorry.
  
  We continued with the Amnio and waited for the results. The results came back normal but we were informed that this wasn't necessarily great news, since her condition was so grim and that the possibility of heart malformations and other congenital conditions were not only possible but probable.
  
  In the meantime, my wife was tested for everything I can think of, from infections, sector scans of the brain, anemia, ECG, etc. Everything came back normal. Our daughter had a great looking heart, her cerebral artery had great output and she was anatomically sound.
  
  So, our daughter has unexplained, non-immune fetal hydrops with cystic hygroma. The likely cause is some sort of malformation of her lyphatic system, with no underlying cause, to this point.
  
  We were now facing what most people would describe, as the most difficult decision of our lives. What do we do? She wasn't in distress, her brain function looked good and for all intents, she didn't know how sick she was. Her pleural effusion seemed the biggest hurdle, being that her lungs wouldn't develop properly and her heart was essentially in Congestive Heart Failure. As the pregnancy progressed for the next couple of weeks, we were seeing a doctor twice a week, using U/S to take a quick look at her. Her hydrops and hygromas were stable, per se. Side note, my wife, who is an ICU nurse wanted to be put on Digoxin and our OB allowed it, although we were told it would probably do nothing.
  
  Anyway, my wife and I decided to let our daughter and God to decide what would happen. We were closely monitered, week by week and our goal was to make it to 30 weeks. We live in the mid-Atlantic region and also went to Children's Hospital of Philadelphia (CHOP), for a second opinion or see if there were any in-vitro surgeries that may help. We were told that there wasn't much hope and that our daughter would most likely not survive any sort of 'shunting'. By the way CHOP is probably the finest hospital I have ever seen or even heard of but their opinion didn't differ from our own doctor.
  
  So we watched and waited. Well, on 29MAY08, our little Grace Elizabeth was born at Norfolk General Hospital, which more importantly, is connected to the NICU at the Cheldren's Hospital of the King's Daughter's (CHKD.) She was born at 28 weeks and 6 days. Her abdomin was larger than the circumference of her head but it was decided that vaginal birth was the plan. When born, the team of doctors and nurses immediatly intubated her and bi-lateral chest tubes were inserted a short time later. The prognosis was grim but she was alive. Her APGAR scores weren't great but she was alive and on a ventilator. We had her baptised since she 'wasn't going to make it through the night' but I am happy to say that she is still fighting her uphill battle in the NICU. WIthout a doubt, she wouldn't have survived this long without the miracle of medicine but I have also seen the miracles of a gracious God, that stepped in when medicine had no place to go. She will be three weeks old tomorrow or 32 weeks old, gestational age. She struggles with Primary Pulmonary Hypertension (PPHN) at the moment but that is looking like it wants to resolve, slowly but surely. Her cystic hygromas are almost non-existant and fluid doesn't seem to be re-accumulating in her lungs. We would love to see her on lower jet ventilator settings but she is quite sensitive to many changes, be it reductions of her BP meds or reductions of her PIP/PEEP on the vent.
  
  Anyway, she still has a long way to go but if you'de like to keep up to date with her condition, some family members started a blog on this very site at:
  http://iamnaysa.googlepages.com/
  
  (Our daughter's name is Grace Elizabeth Naysa Warburton. We were told that 'it would be a miracle' if she made it to birth and Naysa is a Hebrew name that means 'Miracle of God'.)
  
  God Bless and we pray that, if anything, this story may provide a ray of hope that was not afforded my wife and I.

   

• At Wed Jun 18, 10:04:00 AM 2008,  Dad and Mom said…

  Dr., I just found this blog and wanted to extend my heartfelt condolences for all that are going through these difficult times. My wife and I have been going through much of what is being talked about here.
  
  Our series of events started when my wifes quad-screening came back abnormal (16 weeks). We went to talk to a genetic counselor and to have a follow up U/S and amnio. The ultrasound not only showed 3 distinct macrocystic hygromas, but pleural effusion and ascites, as well. Judging from the reaction of the U/S tech., who ran out of the room to get the neonatologist, we knew the news was grim. We were told, in not so many words, that the baby would not survive and that they were sorry.
  
  We continued with the Amnio and waited for the results. The results came back normal but we were informed that this wasn't necessarily great news, since her condition was so grim and that the possibility of heart malformations and other congenital conditions were not only possible but probable.
  
  In the meantime, my wife was tested for everything I can think of, from infections, sector scans of the brain, anemia, ECG, etc. Everything came back normal. Our daughter had a great looking heart, her cerebral artery had great output and she was anatomically sound.
  
  So, our daughter has unexplained, non-immune fetal hydrops with cystic hygroma. The likely cause is some sort of malformation of her lyphatic system, with no underlying cause, to this point.
  
  We were now facing what most people would describe, as the most difficult decision of our lives. What do we do? She wasn't in distress, her brain function looked good and for all intents, she didn't know how sick she was. Her pleural effusion seemed the biggest hurdle, being that her lungs wouldn't develop properly and her heart was essentially in Congestive Heart Failure. As the pregnancy progressed for the next couple of weeks, we were seeing a doctor twice a week, using U/S to take a quick look at her. Her hydrops and hygromas were stable, per se. Side note, my wife, who is an ICU nurse wanted to be put on Digoxin and it was tentatively allowed and closely monitered, for side effects. My wife showed no ill effects but no one really knows if this made a difference. Our doctors don't think so but it made my wife feel like she was doing something proactive to help that beautiful baby growing inside of her. (we both think this should be looked into with some clinical trials to see if this drug crosses the placental wall.)
  
  Anyway, my wife and I decided to let our daughter and God to decide what would happen. We were closely monitered, week by week and our goal was to make it to 30 weeks. We live in the mid-Atlantic region and also went to Children's Hospital of Philadelphia (CHOP), for a second opinion or see if there were any in-vitro surgeries that may help. We were told that there wasn't much hope and that our daughter would most likely not survive any sort of 'shunting'. By the way, CHOP is probably the finest hospital I have ever seen, or even heard of, but their opinion didn't differ from our own doctors.
  
  So we watched and waited. Well, on 29MAY08, our little Grace Elizabeth was born at Norfolk General Hospital, which more importantly, is connected to the NICU at the Children's Hospital of the King's Daughter's (CHKD.) She was born at 28 weeks and 6 days. Her abdomin was larger than the circumference of her head but it was decided that vaginal birth was the plan. When born, the team of doctors and nurses immediatly intubated her and bi-lateral chest tubes were inserted a short time later. The prognosis was grim but she was alive. Her APGAR scores weren't great but she was alive and on a ventilator. We had her baptised since she 'wasn't going to make it through the night' but I am happy to say that she is still fighting her uphill battle in the NICU. WIthout a doubt, she wouldn't have survived this long without the miracle of medicine but I have also seen the miracles of a gracious God, that stepped in when medicine had no place to go. She will be three weeks old tomorrow or 32 weeks old, gestational age. She struggles with Primary Pulmonary Hypertension (PPHN) at the moment but that is looking like it wants to resolve, slowly but surely. Her cystic hygromas are almost non-existant and fluid doesn't seem to be re-accumulating in her chest. Make no mistake, she is still super critical and it's tough to watch your little one have to deal with so much but she has taken some small steps toward recovery and we pray that she will continue and have an abundant, normal life, outside of this hospital.
  
  Anyway, she still has a long way to go but if you'de like to keep up to date with her condition, some family members started a blog on this very site at:
  http://iamnaysa.googlepages.com/
  
  (Our daughter's name is Grace Elizabeth Naysa Warburton. We were told that 'it would be a miracle' if she made it to birth and Naysa is a Hebrew name that means 'Miracle of God'.)
  
  God Bless and we pray that, if anything, this story may provide a ray of hope that was not afforded my wife and I.

   

• At Thu Jun 19, 01:47:00 AM 2008,  Julie said…

  Hello Dr,
  Thanks you so much for taking the time doing this web site. It really has been a great help to me over the last week.
  I am 38 years old and have a 2 year old and a 5 year old, both girls. I am 13 weeks exactly pregnant with twins.
  Last week when I was 12 weeks exactly I had a dating scan which picked up that one baby had a huge 14.5mm cystic hygroma septated going from the top of the forehead,to the base of the spine. A huge amount of fluid. The babies were diagnosed as Dichorionic-Diamniotic twins. Two eggs, but have a fused placenta. The healthy twin was 55.8mm all anatomy normal, the sick twin was 53.3mm but also anatomy looking normal. I was told to come back in a week and they would look and assess the best way forward and show the images to their best collegues in Bristol (U.K). The general view was that CVS was impossible at this time as the placentas were fused and I am now due to have an amnio in 3-4 weeks time in each of the babies sacks to determine the ch of both, just in case they are identical twins that had the egg split very early on. I had another detailed scan yesterday and the babies have grown well. The healthly looking one is now 64.2mm and the sick baby is now 63.4mm. The sick baby has now 3 defined cystic hygromas, two small ones on the back of the skull and one on the base of the neck. The fluid has now decreased to 10mm and stretches from the back of the skull to the middle of the spine. Given that the fluid is decreasing and the baby seems to be playing catch up with the other twin, I do have a very tiny glimmer of hope. The sick baby also has a normal anatomy and no fluid in any organs and the heart beat is also the same as the other twin. I do understand that the results still may come back dire, but in the meantime I am going to try and relax and wait and see. I hope that if it is bad news, the baby will have died naturally in the womb. With this amount of fluid their must be some problem. My question is this, is it possible with a highly trained specialist to take CVS samples at the extreme ends of the placenta in this case, and what % of the results would be false possitive/negative? I would just like to try sooner to get the CH is it has been known. I would then try and find a consultant willing to try it! What do you think is happening here. The only thing I have done differently since I found out about the twins is trebbled my intake of folic acid to 300% recommended daily dose.
  Thankyou, and I will let you know what happens good or bad, in a few weeks.

   

• At Sat Jun 21, 06:01:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Dad and MOM: Thank you so much for sharing your story. It makes the point we have to always consider and that is that there is always hope. We will be keeping baby Grace in our prayers and the best of wishes to all of you. Thank you for taking the time to write during these very difficult times. By the way, now that she is born, have they ever found a cause of her problems? If they do, pleaes let us know. I am never going to be old to learn from my patients or our readers! Dr T

   

• At Sat Jun 21, 06:06:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Julie: The overwheling odds are that the 'sick baby' has a chromosomal abnnormality and the healthy-appearing baby does not. Many specialist in Maternal-Fetal Medicine might have attempted a placental biopsy, but it is probably just as well to wait the next few weeks and have the amniocentesis. By then, the sick baby may have succumbed to its condition. By the way, it is still probably too early to completely rule out a major congenital heart defect as a cause. Best wishes and let us know how things turn out. Dr T

   

• At Tue Jun 24, 09:24:00 AM 2008,  Anonymous said…

  Hello Dr. T,
  I am 14 weeks pregnant and this is my 3rd pregnancy (I have 2 healthy girls). I had a u/s done @the 10the week and we foung out that my baby had a 9mm cystic hygroma. I was referred to an MFM doctor and they explained all the possible scenarios. I was told that by the size of the CH that the baby will have heart failure. They recommended me to terminate my pregnacy. At the beginning, I was so scared, specially because I was told that this would be a high risk pregnancy and I have two girls to take care of. I've some spotting issues and last week was the worst episode, that I and at the hospital thought that I had lost my amniotic fluid, by the way, I am scheduled for an amnio this following Friday. With this last situation I thought that it was the end of my pregnancy, but when I had an u/s the day after visiting the ER, it seemed to be that the CH is almost gone. The lady that performed the u/s was the one who found it at the baginning and she told me that if this would have been the first time she had seen me, she couldn't probably tell that the baby had a hygroma. I have read all of the stories related here, and even though I still need to wait for the amnio results, I feel that there is hope. It is going to be a long weekend waiting for the results but I have faith in God, and will pray that my baby and pregnancy will turn out to be healthy ones.
  Thanks for the hope that you all bring through your comments.
  Mary

   

• At Thu Jun 26, 09:53:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  Mary: Thank you for your comment. You are in no danger yourself at this point, so there is no harm in waiting until you have more information. We will be praying for you too. Please let us know how things turn out. Dr T

   

• At Fri Jun 27, 10:52:00 AM 2008,  carrie said…

  Hello,
  
  Thanks so much for this wonderful site. On Tuesday, June 24, while I was in for a CVS, the doctor diagnosed my 11 week fetus with a 5mm cystic hygroma. (I had the CVS for advanced maternal age. I had no prescreening done. I am 36, this is my 3rd child and the first time this has happened.)
  
  At the time, it was around the head and neck only. The HR was 170. After waiting 3 days for the rapid results of the CVS, we learned last night that the lab couldn't use the sample, so I went back in for a re-test this morning. The same doctor looked at the fetus again and noted that the CH had grown to 5.6 mm and now extends down the back. It is non-septated. The HR is 165.
  
  Do you have any thoughts on the importance of an increasing CH?
  Is that an indicator of a poorer prognosis, even if the chromosomal report is clear?
  
  Thank you for sharing your thoughts.
  
  Carrie

   

• At Sat Jun 28, 09:02:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Carrie: If the cystic hygroma is expanding that is not a good sign. There is a high likelihood the baby has a chromosomal abnormality or a cardiovascular defect that cannot be seen at this time. I am so sorry. I hope the CVS is successful this time. Kind regards, Dr T

   

• At Sun Jun 29, 03:33:00 PM 2008,  carrie said…

  Thank you for your quick response. It was actually reassuring. We had chosen to end the pregnancy even if the CVS came back normal--because, like an earlier poster, we have two toddlers already and are not able to care for a special needs child. But we've actually been afraid that our CVS results would be normal and we'd always wonder if we did the right thing. Waiting for the 22 weeks echo and scan was not an option for us as ending a pregnancy at that stage would be more difficult and painful than it is for us at 11 weeks. When we learned that the hygroma was growing, we were actually sort of relieved. We'll be working closely with our genetic counselor to determine if another pregnancy may be more successful.
  
  We're also taking part in an interesting clinical trial to compare the fetus' genes to ours to look for mutations. My perinatologist explained that this research is being used to develop much more refined prenatal testing that will be far more sophisticated and specific than current CVS and amnio analysis. And we may get some more specific information about what happened to our baby.

   

• At Mon Jun 30, 02:28:00 PM 2008,  Julie said…

  Hello again,
  Thankyou for being straight forward about my situation. This is why I posted a comment to you.
  I am still awaiting my amnio at 16 weeks for ch results for both my twins, but I have been looking at the ch abnormalities that probably will show up in my case. I understand that Downs Syndrome is a slight possibility in my case but that Turners Syndrome maybe much more likley to be the cause. Some papers I have read state that fluid thicker than 6.5mm indicates this is more likely and that Downs is usually less than 6.5mm. Am I correct in thinking this? I have looked at a web site over here in the UK on Turners Syndrome and it says that 30% of Turners children have heart defects. They are female and have growth problems and hormonal problems, but it can be treated. Also from pictures and statements from people with this syndrome, they are mentally normal and with treatment can only be 4" shorter than normal.To me they look as odd or as normal as we all can be! I cannot think for me, that this would be a reason to terminate providing a major heart or organ defect was not found.Have I just been reading a very misleading report here about Turners? I just want to get as much information about what the cause could be so I can make an informed decision when the time comes. I truly value life and I could not even think to terminate without this.
  I hope you can help again, Kind Regards, Julie x

   

• At Wed Jul 02, 09:23:00 AM 2008,  Anonymous said…

  Dr., I'm 31 and my husband is 26 and we are in our first pregnancy. At 10.5 weeks I had an ultrasound and the baby was shown to have an increased nuchal fold (4.2 mm at that time). The doctor recommended that I see a specialist in another town and obtain a CVS. I was able to get an appointment with the genetic counselor within 4 days but wouldn't be able to do the CVS until the following week due to the doctor being on vacation. During my appointment with the genetic counselor they performed a more detailed ultrasound including a 3-D scan and they found that the fold had grown to 6mm and that it contained two membranes. The doctor and the genetic counselor have advised me based on the symptoms at hand that the baby has about a 9% chance of making it full term and a 10% chance of having major morbidity. Would you confirm these statistics just based on the information I'm giving you? We are still going to get the CVS tomorrow but it sounds like that will just give us a reason for the symptom but it won't necessary increase the percentages of the baby surviving or not having major problems. The other question I had was how likely is it that this will happen again. The genetic counselor says it is between 1 and 3% chance but I'm so scared it will be a pattern. Any thoughts would be great!

   

• At Wed Jul 02, 12:58:00 PM 2008,  Liz said…

  Dr., after I had a sonogram done at 11 weeks, my OB told me he suspected cystic hygroma and he referred me to a Genetic Specialist. He told me to be prepared for a CVZ. I am 39 years old and should prepare myself for Chromosomal Abnormalitis. The cystic hygroma measured 6.7 and the Dr. found evidence of Hydrops in the abdomen and surrounding the baby. He told me the baby has no chance. He suggested I terminate the pregnancy or I may wait for the heart to stop but he is not sure when that would happen.
  
  He told me there is no point in doing a CVS since it really does not matter what the problem is since the outcome won't change.
  
  My husband and I were devastated!! I was in shock, I went home, called my OB and could not get a call back from him for 5 days, his office was closed. When he called me he told me he could not terminate the pregnancy since he is affilliated with a Catholic Hospital. I am also Catholic and now feel I should wait for the baby to pass on it's own. I am so sick, I now cannot eat, I get sick if I try, I cannot sleep, my husband talked to another Doctor and they told him if I wait too long there is greater risks in doing a D & C after 15 weeks, today I am 12 weeks and 1 day, I do not know what to do. I want to end this but I am afraid I may always wonder if it had a chance. Should I have the CVS anyway and wait or just give up and move on? What are the chances this baby will survive if any?

   

• At Thu Jul 03, 06:22:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Liz: If all that you told me is true, then the baby does have a high probability of having a chomsomal abnormality and not surviving while inside of you - but that is not 100% certain, and others have had good outcomes under these circmstances. I think it would help you to have the CVS done in terms of any decisions you make regarding continuation of the pregnancy. I am so sorry for your problems and wish you the best.
  Dr T

   

• At Thu Jul 03, 06:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Carrie June 29: I know things have been hard, but thank you for sharing your story. Others will appreciate what you have gone through and the thinking you used to make a decision that was 'right' for you. That is what is so very important under these circumstances. You will probably be at very low risk for recurrence. Can you please let us know what your doctors find out about the baby? Dr T

   

• At Thu Jul 03, 06:38:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Julie: The information you have discovered regarding Turner syndrome appears to be accurate. I have even cared for some women with turner's who managed to have babies - the wonders of assisted reproductive technologies! I think in your case you have made an excellent decision to await chromosome results on the babies before making any further decisions. I wish you the best. Please let us know what you find out. Dr T

   

• At Thu Jul 03, 06:42:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 2: It appeasr your baby has a septated cystic hygroma that is increasing in size. The numbers you were given are accurate because the baby has a high cahnec of having a chomsomal and/or structural heart abnormality. But, as you will see by reading the comments of others, sometimes,despite the doom and gloom of the statistics, things turn out alright in the end (or 'nature' makes the hard decisons for us). Best of luck and please let us know what you find out. Dr T

   

• At Mon Jul 07, 08:42:00 PM 2008,  Rachel said…

  Dr.,
  My original post was on July 2nd and initially posted as anonymous. I had my CVS last Thursday and the doctors' were certain it would come out that the baby had a chromosomal abnormality. However, the preliminary results came back normal. Where does this leave us? The genetic counselor stated that they are sure what the prognosis is at this point. What are the possible problems now? Their recommendations are the I obtain a early echocardiogram done on the 16th week. There is one doctor in the state that does this procedure. Can you help clarify where we might stand now? Thank you so much.
  
  Rachel

   

• At Tue Jul 08, 09:06:00 AM 2008,  Rachel said…

  Dr. Hello again. In my follow up message dated July 7th I forgot to mention that the doctors' noted an abnormal venous doppler during their last ultrasound (July 3rd). They told me they aren't sure the indications of this. Can you tell me anything more?
  
  Thank you,
  Rachel

   

• At Tue Jul 08, 09:36:00 AM 2008,  Carrie said…

  Hello,
  
  I got my full CVS results today and they were normal. So my next step is an echocardiogram at CHOP next week. I'll be 14 weeks. (they do very early fetal echoes at CHOP.) I'll post my results when I get them. I also want to see if I can get another US to see if the hygroma is still growing or if it has stopped. I am desperate for concrete information to base a decision on.

   

• At Wed Jul 09, 06:12:00 AM 2008,  Julie said…

  Dear Dr,
  I went to the hospital today to have my amnio done on both twins and the twin with the cystic hygroma had sadly passed away at approximately 13-14 weeks. I was sad but also relived at not having to make what would have ultimatly been a painful decision to terminate. I have now chosen to wait until my 20 week scan to check for anatomy defects on the remaining twin. My consultant has said that he cannot see any problems so far, but also cannot rule out a very slight probability that the eggs split at birth and therefore the other twin may also have a genetic problem such as downs. I have decided that I cannot cope with loosing two babies or indeed having to make a decision if the baby was a downs baby to terminate. My cosultant states that Dichorionic twins have been diagnosed but that there is a small risk of monozygosity with discordant phenotype. I do know that the healthy baby had a normal nt thickness at 12 weeks and also had the nasal bone present. The consultant has not found any soft markers to indicate any problems.
  In the back of my mind I am worried that my baby may have downs, even though the risk is minimal. In your opinion, at 20 weeks will they be able to pick up a good enough detail to rule out this completely or be more sure about this?
  Kind Regards, Julie x

   

• At Wed Jul 09, 06:37:00 AM 2008,  Sarah said…

  Dr T, I am 29 years old & my husband and I are healthy with no genetic syndromes that we know of. I am now 16 weeks pregnant for the first time. At my 12 weeks scan, the Dr noticed a NT of 4mm and I had a CVS done straight away. We now have all the chromosome results back and they are negative for any abnormalities. At 13weeks, during a specialist ultrasound, the Dr found 2 cystic hygromas, which were not present the week before. The Dr said she has a 4x6mm cystic hygroma on each side of her neck. We have been having almost weekly ultrasounds and the Drs have said that the hygromas have not changed in size. We have also been told that the face, limbs, movement, organs (from what they can tell) and heart all look normal. The 3D ultrasound showed that the baby did not have a cleft lip or any other facial abnormality. On Friday we are going to our 16week ultrasound. We are nervous and upset as we really wanted this little baby. It seems as though the doctors can not tell us anything, except to wait until 18/20 weeks. The Dr also said based on our medical histories that it was unlikely to be an inherited syndrome. She thinks that it is a matter of cystic hygromas/lymphatic condition. Originally she thought it may be a symptom of a heart condition, but in recent ultrasounds, she could see the four chambers of the heart and the valves, which appreaed to be functioning properly. I am heartbroken because we dont know what to do. Is there any hope for our baby girl? What problems would she face during her lifetime if it was a matter of simply cystic hygromas? Could you please give us the odds of having a healthy baby? I am desperate for some answers. I dont think I could grow more attached to this little one to loose her at 20 weeks. Please, any information would be greatly appreciated.

   

• At Sat Jul 12, 03:20:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Rachel July 7 and 8: Well, a good start anyway if the baby is chromosomally normal. The next step is to rule out a major cardiovascular malformation or other intrathoracic anomaly as the cause of the cystic hygroma. Sometime these can be picked up as early as 14-16 weeks and MOST can be detected by 18-20 weeks. That is your next step. There is always a small chance that the baby could have a genetic or syndromic problem and still have normal numbers of chromosomes, but a heart malformation is more likely. If the baby had an abnormal Doppler pattern, your doctor was probably looking at blood flow in the ductus venosus. If there is absent or reverse flow when the valves AV valves are supposed to beclosed, that can be evidence of a cardiac malformation associated with regurgitation across the tricuspid valve. Ask the doctors to explain all this to you. Best wishes and let us know what you find out next. Dr T

   

• At Sat Jul 12, 03:21:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Carrie: Best of luck and please let us know! Dr T

   

• At Sat Jul 12, 03:24:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Julie July 9: If no 'soft markers' or major abnormalities are seen in the living baby at 18-20 weeks, that reduces your risk for a baby with Down syndrome by as much as 90%, particularly, with the normal NT and nasal bone seen earlier. Odds are the remaining baby is chromosomally normal. I am sorry for the loss of the other baby. Best wishes for the rest of the pregnancy. Dr T

   

• At Sat Jul 12, 03:31:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Sarah: The thing to do at this point is to take things one step at a time. It is good that the baby appears to be chromosomally normal. A cardiac defect, or other intrathoracic or lymphatic abnormality cannot be ruled out at this time, but if the baby has no major abnormality detected at 18-20weeks, the chance for a 'healthy baby' goes up a little more. Even if there is no family history of genetic or syndromic problems, that also does not rule out that possibility at this time. I wish I could answer your questions but they depend entirely on the primary cause of the cystic hygroma, and whether that is something reversible (or otherwise manageable), and whether or not the primary cause results in cardiac decompensation (heart failure) in the baby prior to delivery. Let us know as you learn more and best wishes. Dr T

   

• At Mon Jul 14, 04:57:00 PM 2008,  Anonymous said…

  3rd pregnancy in a row with increased nuchal thickening! First was lost because of heart issues and Cystic Hygroma(baby girl Evelyn 25 weeks). 2nd we had a healthy baby girl no Hygroma just nuchal thickening that resolved by 16weeks. Cystic Hygroma diagnosed at 14wks with this pregnancy, Did Amnio-results were normal(it's a boy)
  Fetal echocardiogram was normal. Now I am at 20wks currently and I am lost for odds of this pregnancy the hygroma is still at 6mm but otherwise our boy is healthy. There is nothing in either of our families that would suggest it was genetic. Could this be environmental? Rh related as I am negative and husband is not?
  help
  Stephanie

   

• At Tue Jul 15, 11:13:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Stephanie: It could still be genetic (wherein both you and your husband share a 'bad gene' that in a single dose does not cause any problems - which is why no one else in the family has been affected to this point), but I doubt it is environmental or related to your blood type unless you are isoimmunized. The best thing you have going for you is that you have gotten normal children despite the findings of CH during the pregnancy. Good luck and thanks for sharing your story with us! Dr T

   

• At Sun Jul 20, 09:38:00 PM 2008,  Rachel said…

  Dr.,
  
  Full CVS results came back and everything was normal. They ran an extra test called the 22Q and that also came back normal. I spotted last week so the doctors were concerned of miscarriage but when they performed an ultrasound the baby seemed fine. They did some preliminary anatomy checks and said that everything appeared normal and the doctor stated that the nuchal fold appeared better. The heart rate was still strong at 150.
  
  I see the maternal and fetal medicine specialist who diagnosed the cystic hygroma tomorrow afternoon. I am now at 15 weeks. He will do another ultra sound to examine the heart, do an anatomy check and check the nuchal fold. Based on this information do things look any better or are we still looking at a high risk of something being wrong with the baby? I will let you know what comes of my appointment tomorrow.

   

• At Tue Jul 22, 06:33:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Rachel: Thanks for keeping us updated and keep your chin up!
  Dr T

   

• At Mon Aug 11, 06:26:00 PM 2008,  crystal said…

  I just wanted to post some positive information for anyone who may have this diagnosis of CH. DO NOT GIVE UP HOPE! My son was diagnosed with CH at about 11 weeks. We did CVS- Normal. fetal echocardiogram- normal. The CH slowly resolved during the 2nd and 3rd trimester. We never gave up hope and we gave birth to a beautiful, healthy baby boy who is now 2 years old. When he was born he did have an extra roll of fat of his neck, which is now gone. Hang in there!

   

• At Tue Aug 12, 06:18:00 AM 2008,  Jackie said…

  Dr T.,
  
  This site alone has given me comfort. I think its great, especially since I haven't found one like it out there.
  
  Yesterday, we went for our first round of Integrated Prenatal Screening. During the sonogram, the nurse pulled the doctor in and he viewed the pictures. He then told us there is a problem and the baby has a large cystic hygroma on the back of its neck. We didn't get a measurement, or maybe we did, but we both were kind of stuck at "there's a problem" and it was hard to focus after hearing that. From what we gathered, the prognosis is poor as its "pretty large". The dr mentioned Turner's Syndrome and I've read up on this.
  
  My questions for you are the following: Do mainly female babies get cystic hygromas? What should I do in the 3 weeks of waiting until my amnio? (I'm 13 weeks, 2 days now) Will the baby most likely pass before then? My family has a history of disabilities. My brother suffers from agenesis of the corpus collosum, a paternal cousin had lack of oxygen at birth and subsequently suffers from developmental delays, as well as another paternal cousin died at birth from severe disfigurement and mental retardation - so, in your opinion, is this cystic hygroma caused by my genes?
  
  I'm scheduled for genetic counseling the day of my amnio. I appreciate any help or suggestions. I feel lost at this point and don't want to give up on baby but I'm not planning on a miracle either. Oh yeah, I'm 26 and this is my first pregnancy. I drank socially prior to my pregnancy and smoked on and off for 8 years. I found out early that I was pregnant (5 weeks) and stopped all recreational behaviors.
  
  Thanks again and I sincerely appreciate your dedication to this site.
  
  Jackie

   

• At Tue Aug 12, 12:54:00 PM 2008,  Anonymous said…

  I just turned 27 and at our 12w 1 day U/S we were told our baby had what was consistent with a cystic hygroma (nuchol fold 6mm) and an englarged bladder and stomach. The doctor explained that the the stomach and bladder were likely filled with lymphatic fluid due to a circulatory (heart) issue. We were sent immediately for a CVS and are waiting for the results. The medical center that performed the CVS doesn't release prelim results so we have to wait a week or more (which is torture). Our baby was conceived via IVF so this is was extremely devastating b/c it took us so long to even get to this point. I am so scared we won't be able to have children. Even though we are young, "normal", healthy and have been tested for everything under the sun (due to IVF) it just seems its not in our cards to have children. I'm just starting to show and people at work are finding out and I'm hesitant to say anything b/c I feel like any day I could wake up and have a miscarriage. Does anyone have any information about having an enlarged stomach and/or bladder due to poor lymphatic circulation?

   

• At Tue Aug 12, 08:31:00 PM 2008,  Anonymous said…

  Hi there,
  
  I had an ultrasound at 13weeks 6 days which showed a noraml NT (1.7mm) but 2 bilateral nuchal cysts on the neck, one of 6mm. I had CVS and all the results came back normal. Am due for an anatomy scan next week. My ob doesn't seem too concerned about the cysts. Can you verify for me if these are cystic hygromas and what the implications are.
  Many thanks

   

• At Wed Aug 13, 05:40:00 AM 2008,  Jackie said…

  To anonymous 8/15:
  
  I feel your pain. I'm sorry to hear this is happening to you as well, especially since you've tried to so hard to get to this point. Don't have any info for you on enlarged stomachs, but I know how you feel about starting to show and not knowing what to tell anyone. We found out this past Monday about the cystic hygroma, and only family and extremely close friends know. I don't see the reason to tell anyone else yet as we don't know what baby has in store for us. I've had nightmares about waking up to a miscarriage. Felt absolutely devastated and depressed over the past 48 hours but finally felt a glimmer of hope last evening. Don't give up. I felt that preparing myself for the inevitable was best but I can't forget there is always room for a miracle. There still is a little baby growing inside of us that hasn't given up. This waiting to period is the worst but I believe will make us stronger in the long run. I look forward to reading everyone's posts on this site as I have 3 weeks until my amnio. Please keep hope and whatever is supposed to happen, will. Please post your updates. I'll keep you in my thoughts and prayers. Wish you and your husband peace and comfort during this difficult time.

   

• At Sat Aug 16, 05:26:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jackie: Cystic hygromas are very common with Turner syndrome (45 XO) and those babies are phenotypically all "female". Other than that I am not aware of any gender specific relationship. Not knowing anymore about the specific causes of the family problems, I cannot comment about this being in your "genes." However, if the baby is confirmed to have Turner or Down syndrome, both those are at fairly low risk of recurrenec at your age. I doubt you past history of smoking or drinking contributed either. This is probably just one of those 'chance things.' I am so sorry for ewhat you are going through. Please let us know what happens. Dr T

   

• At Sat Aug 16, 05:30:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 12: I am not sure what is going on in your case unless the baby is already "hydropic" (in heart failure). This could be a chromosomal abnormality, a syndromic (genetic problem), or simply the result of a major congenital heart defect. What do your doctors think is the cause of your "infertility?" Do you have any other medical conditions? Please let us know what you find out. I learn from your comments as well. Kind regards. Dr T

   

• At Sat Aug 16, 05:32:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jackie Aug 15: Thank you for those insightful comments. Hang in there yourself! Dr T

   

• At Sat Aug 16, 06:46:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 12 08:31: I have no idea. Could it be that they were simply seeing the umbilical cord by the baby's neck?!? Let me know what they find out later on in the pregnancy. Dr T

   

• At Mon Aug 18, 07:17:00 AM 2008,  Anonymous said…

  Dr. T,
  Our CVS test results came back normal as did a genetic blood screen for my husband and I. That was positive news as hopefully, this won't be a recurrent thing with future pregnancies. Our infertility was due to "male-factor" so we had ICSI in conjunction with IVF. Not sure if that maybe contributed to this. I go tomorrow for a 14 wk. scan to see if the fluid in the stomach and bladder (and the cystic hygroma) has improved or gotten worse. Our hopes aren't too high, but atleast we know what we're facing now. Our doctor has been referring us to specialists (which is great) but after we see them they are referring us back to our regular OB. Our regular OB has been a little hesitant to see us, which is super frustating...and we get the feeling he just doesn't want to be the one to break the bad news to us. Finally, we got an appt for another U/S (tomorrow) at week 14.

   

• At Mon Aug 18, 07:22:00 AM 2008,  Anonymous said…

  Dr. T.
  One more bit of info to answer your question about our health history. No, my husband and I don't have any other health issues that we are aware of (and we feel like we have been tested for everything this past year!) My husband is 31, I'm 27 and we are both very athletic. One thing that keeps bothering me is that around my 7th week I got a cold sore from too much sun over the 4th of July. Do you think that could be related?

   

• At Fri Aug 22, 06:07:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 18: Usually the "specialists" will be the ones to break the bad news to you once they figure out what is going on. If you have a history of cold sores (usually caused by Herpes simplex virus type 1) it is VERY unlikely that contributed at all to the baby's problems. Let us know as you get more information. Thanks! Dr T

   

• At Wed Aug 27, 07:25:00 AM 2008,  Carrie said…

  Hello Dr. T. and everyone,
  
  I am very happy to share the news that there is hope. I posted a few months ago when my daughter was first diagnosed with a cystic hygroma at 11.5 weeks. It measured 5 and was up to 5.9 three days later. My husband and I were so convinced it was bad that we made an appointment to end the pregnancy at 12 weeks. After our consult, we decided to wait until test results came back. We had to balance later termination with needing to actually get a diagnosis, which was very, very hard. We got an apppointment at Children's Hospital of Philadelphia (CHOP) for a 14-week echocardiogram, so we decided to wait for that. In the meantime, all of the chromosomes came back normal. We'd participated in a clinical trial to test the chorionic villi for genetic diseases and that came back normal too.
  
  At CHOP, we had an ultrasound and an echo and learned that the hygroma was gone. The radiologist told us not to give it a second thought and said that CH can be a totally normal developmental phase in some cases and it looked like ours was one of them. When we got home, we got a call from our genetic counselor that we were'nt carriers for anything they tested for. The news kept getting better.
  
  CHOP scheduled us for our anatomy scan at 20 weeks, along with another echo and an MRI. That was yesterday.
  
  The echo and ultrasound came back normal as far as they could tell. Unfortunately, I freaked out in the MRI and couldn't do it. But the doctor said it didn't matter since everything else looked fine.
  
  I have one more test, another echo at 30 weeks, to look at the heart one more time. But even if there is something wrong, it's nothing like what we'd expected, and at this point, I am not even worried anymore.
  
  Of course, every pregnancy has a 3 to 5% change of undetectable birth defects, but I'm now like any other pregnant woman, and facing a normal amount of risk.
  
  Initially, we were looking at a 10% to 30% chance of a healthy baby, and now we're looking at 95% to 97% chance. My daughter isn't here yet, but I really think we beat the odds.
  
  If you've recently gotten a diagnosis, don't lose hope. Just because the odds seem like they're not in your favor, it doesn't mean you're not going to fall into the healthy baby group. I am not an optimistic person at all and I really felt like I had no hope--and yet I was wrong.
  
  The best thing we did was get to a major medical center with a lot of experience with this sort of thing.
  
  When I spend all my time reading studies online, I was terrified. And talking to my OB and genetic counselor didn't help much--they weren't experienced with CH and seemed to lean toward a more pessimistic view.
  
  But when I went to CHOP, they were well acquainted with CH and were able to help me understand what was going on in my case. Two different docs told me that CH or increased NT is more common that most OBs realize and that it's very often a developmental variant, not a problem. It can indicate other issues--and can be a useful screen--but doesn't mean the baby is doomed, as I'd thought.
  
  Best of luck to everyone woh is coming here searching for hope and answers. And a huge thank you to Dr. T for being there for us in our time of need!
  
  Carrie

   

• At Fri Aug 29, 09:24:00 AM 2008,  jennifer said…

  Hi- I am 43 and have a healthy 11-yr old boy. I am now at 12 wks with my second baby (no miscarriages or other pregnancies in between. I have been referred to a perinatologist because a sono indicated the possibility of a large hygroma around the baby (8mm)- I obviously don't know how to view a sono but it looks like the bubble is all the way around the baby not just in one place (i.e. along the back, along the neck)- I had a sono in the obs office on Monday and the baby was on his back facing up and the "Membrane line" was above him- At the second sono, 2 days later, done by an actual sonographer, the baby was face down and the line (membrane) was still in the same place but now looks like it runs down his back and around to the front. As I have another week before I see the peri-n, I am trying to find answers for myself before I go crazy. Is there a possibility that this baby is still in the amniotic sac and it hasn't fused to the chorion because that is actually waht it looks like to me, especially in light of his position changes from the first and second sonos- maybe I am in denial and I know this is very little info for you to work with with but any thoughts...? When do the amnion and the chorion normally fuse together- just a range- and is it weird that this would have not happened yet? Thanks...and thanks for this website-when do you ever get anything else done?!

   

• At Fri Aug 29, 09:27:00 AM 2008,  jennifer said…

  Just to add some info- the baby's growth rate is fine and the heart rate is optimal (156 bpm) last week. My husband and I are healthy and (mostly)"habit-free" :)

   

• At Sat Aug 30, 06:57:00 PM 2008,  Anonymous said…

  In February 2008 I went in for an U/S at 10 weeks at my request because I was pregnant with twins and one measuring behind. The u/s showed that the smaller twin was gone (they called it vanishing twin syndrome). Additionally, they told me that the remaining baby had a thicker than average neck and that I should schedule an ERA at 12 weeks. Given the fact that I was 35 I decided to go right to the CVS. When I went for the CVS my baby's heartrate was very unstable, going up and down until it just stopped. I went ahead and had an amnio to see if there was a chromosonal abnormality that could of caused the miscarriage. I also had a D&E and pathology study done on the fetus. My OB told me that they could find nothing wrong. The amnio came back normal and the pathology did not find anything that would of caused a miscarriage. However, I still asked for the results. I saw in the pathology report that my baby had a 3.3mm cystic hygroma on the neck. Do you think that is the cause of the miscarriage. Could there have been something wrong with the heart that may not show up on the pathology study? I just found out that I am 5.2 weeks pregnant and terrified that this can happen again. Can this baby be at risk for a cystic hygroma?

   

• At Tue Sep 02, 05:47:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Carrie: Thanks for sharing the wonderful feedback. Our hearts go out to you for the rest of the pregnancy! Write when the baby is born! Dr T

   

• At Tue Sep 02, 05:51:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Jennifer. The amnion and chorion often are fused between 12- 14 weeks. This can occur later, or not at all, with babies that have certain chromosomal abnormalities. If your baby really has an 8 mm cytic hygroma, the risk for chromosomal abnormality is quite high. Why don't you see what the MFM specialist has to say and then check back with us. Good luck! Dr T

   

• At Tue Sep 02, 05:55:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Aug 30: I don't have an answer. It is possible that you lost the second baby as the result of the loss of the first. twins are also at increased risk for congenital anomalies and it is EXCEEDINGLY difficult to do pathologic evaluation of a fetal heart at 12 weeks. I know you are afraid of another bad outcome, but short of a chromosomally abnormal baby, your odds are respectable that this will not recur. Sorry for your losses and thanks for reading. Dr T

   

• At Wed Sep 03, 02:15:00 PM 2008,  Anonymous said…

  Hi, I had an NT scan today at gestational age 12 weeks 4 days and got a measurement back of 3.2mm. I am 42, first pregnancy, so the risk was expressed to me as 1:3 for Trisomy 21 and 1:13 for 13/18. I was whisked into CVS and get the results back in 4 days. If normal, should I be asking for a new scan to look for other problems? At what week should I be looking to get the next scan? I am in the UK and the next scan is at 20 weeks, surely I should get one sooner? The ultrasound report says skull/brain appears normal, heart not examined, spine appears normal, abdomen appears normal, stomach/bladder/hands/feet all visible. If its not normal my partner and I have decided to terminate, which will be sad as the fetus looked really active and happy.

   

• At Sun Sep 28, 07:02:00 PM 2008,  Heather Scruggs said…

  Dear Dr. T, my first post was on June 16 about losing a baby with a cystic hygroma and hydrops. We have since learned that I have Noonan Syndrome and that is likely why we lost our baby boy at 18 weeks gestation. Do you have any experience with women with Noonans having children and how their children have turned out? I have spoken with my geneticist about this at length but was curious to see if you had any insight! We are currently debating whether or not to attempt another pregnancy. Thanks for your time!

   

• At Thu Oct 02, 07:25:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 3: I am sorry for my delayed response to you, but Healthline has been a little slow in sending readers' comments to my mailbox. So, if you had CVS, I suppose you have the answer by now (and please let us know). In my practice in the U.S., even if the CVS was normal, I would probably offer you another ultrasound at 16 weeks and then again at 20 weeks. But, a single scan at 18-20 weeks in experienced hands should give you any additional information you might need about the baby. I hope things turned out well. Kind regards,
  Dr T

   

• At Thu Oct 02, 07:35:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Heather: My understanding of Noonan syndrome is that it appears to be inherited by 'autosomal dominant' transmission - that means half your sons and half your daughters are at risk for inheriting it from you. However, the condition also has variable penetrance and expressivity - that means that even if a child inherits the genetic defect, they may or may not be severely affected by the condition. Have you asked the gentic counselor if the condition can be diagnosed by chromosomal markers. If it can be than you might be able to have CVS or an amniocentesis to find out if a baby has Noonan's. It might even be diagnosable by preimplantation genetic diagnosis (PGD). Best wishes to you. You have a reasonable chance at having a healthy baby, but there might be some heartache along the way. Kind regards, Dr T

   

• At Tue Oct 07, 02:16:00 PM 2008,  amanda said…

  hiya,i live in scotland and 2 years ago i fell pregnant for the 1st time.my 12 wk scan was normal but when i got my bloods taken at 16wks they came bk high risk.i was given another scan at 18wks which discovered the baby had a large cystic hygroma and joint problems.we had to make the hardest decision of ourlives and terminate.the post mortem showed there was a severe heart condition,muscle development problems(hands and feet turned in) and the cystic hygroma and that the baby would have died before or definately after birth,and that it is genetic and was a 1 in 4 chance it would happen again.i fell pregnant 7 months later and was given early scans to discover the same again,but this time i did not have to go through the birth and was given a d and c since i was 13wks.can any tests be done on our genes to help us with future pregnancies.thanks amanda

   

• At Mon Oct 13, 01:41:00 AM 2008,  Anonymous said…

  Dr, I am 42. I had an NT measurement of 3.6mm, followed by CVS which proved down syndrome. I made the difficult decision to terminate. I want to try for another baby but I'm scared. My question is; does having had one fetus with Down syndrome increase my chances higher than my normal agegroup 1:30 odds?

   

• At Fri Oct 17, 12:28:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 13: No, at your age, the risk is basically your 'age alone' risk even if you have previously had a pregnancy with a chromosomal abnormality. I am so sorry for your recent outcome and wish you the best in the future. Dr T

   

• At Wed Oct 22, 06:56:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Amanda: If your doctors have a specific genetic diagnosis in mind, you need to speak with a Geneticist to find out if there is a way to detect the gene defect by specific chromosomal/mutation markers. If there is such a test available, then you should consider in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD)to find out which embryos do NOT carry the gene defect and have only those placed into your uterus to grow. Best wishes and thank you so much for writing! Dr T

   

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