Fetal Cystic Hygromas in First Trimester
Wednesday, August 22, 2007
Kenneth F. Trofatter, Jr., MD, PhD
Sat Jun 09, 09:10:00 AM 2007, Laura said:
My name is Laura and I am 24 years old. Me and my husband went for our first 12 week ultrasound scan a couple of days ago and to our shock we were told that our unborn child has a cystic hygroma, which we are told is fluid underneath the skin at the back of the babies neck (the nuchal translucency) measuring 6 mm. We are devasted at this news because we are told the outlook is not good. It is our first pregnancy and it has taken us so long to get pregnant due to my polycystic ovaries, it just makes it so much harder to deal with. We decided to have a CVS (chorionic villus sampling). They took a biopsy from the placenta which they are now going to test. We should have the rapid test results for Down syndrome, Turner syndrome, and Edwards syndrome by 13th June. We are praying that they will come back clear. They are also going to do routine chromosomal studies to look for other chromosomal abnormalities that are not detected by the rapid test. They said if all the tests are normal, and if the fluid drains away by 18-20 weeks we may have a chance. Its just so hard to understand how some fluid behind the neck could indicate these sort of problems. I am only 24 years old, and so is my husband. We are young, fit and eat a very healthy diet, it just seems so unfair. Do you have any idea of our odds. What is the percentage of babies that do get over this? Have you had any success stories that could give us some hope? Thank you for your time and we hope to hear back soon. Laura
Tues Jun 12, 09:10:00 AM 2007, Kenneth F. Trofatter, Jr., MD, PhD responded:
I know this is hard, especially in a first pregnancy you have had so much trouble getting to because of your polycystic ovary syndrome. Unfortunately, finding the cystic hygroma in first trimester is associated with a very high risk for a baby that has a chromosomal abnormality, most often Down syndrome (trisomy 21 = 47,+21)), Turner syndrome (45XO,missing one sex chromosome), or Edwards syndrome (trisomy 18 = 47,+18). Sometimes cystic hygromas are associated with gene defects and not chromosomal abnormalities per se. Examples of the latter include Noonan syndrome, Roberts syndrome, polysplenia syndrome, multiple pterygium syndrome, and others. At times the baby has no chromosomal abnormality or obvious genetic condition. Under these circumstances, there is an increased risk for a major heart abnormality as an underlying cause, although we do not entirely understand why babies develop cystic hygromas under these circumstances. The prognosis for the baby depends on what problems the baby has, chromosomal, genetic, and/or associated structural. If the baby has no chromosomal abnormality and does not go into heart failure (develop hydrops fetalis), it may well survive the pregnancy. If no syndromic problems, chromosomal mosaicism, or gene defects are discovered after delivery, the baby may have a reasonable chance at doing well. Your doctors will discuss this more with you after they get your test results back. At that point (if they haven't already), they will probably refer you to a genetic counselor to get more information. Good luck to both of you and thank you for reading. By the way, it is highly unlikely that anything you have any control over caused this to happen. If you will, let me know what the tests show and how the pregnancy turns out...
Sun June 24 11:50 AM 2007, Anonymous said:
Dr. Trofatter, I am 41 year old with a 14 week pregnancy. Due to AMA (advanced maternal age) I elected to have a nuchal translucency (NT) scan done and the perinatologist found a large cystic hygroma; I was told extremely large 180mm3 and the doc was not optimistic. He performed CVS that day and we just recieved news that the FISH results were normal. Because there are no genetic defects, I was told we are looking at heart abnormalities, probably severe. My husband and I are deciding whether to terminate but the normal chromosome results makes this decision difficult. I have been doing research on the web for days now and I find myself unable to take care of myself and my family. I am reading the prognosis is poor and if I wait beyond 18 weeks I cannot terminate the pregnancy in my state. My question is can or should I get repeated ultrasound hoping the hygroma goes down and how often is an ultrasound indicated for this? Will the hygroma go down all at once or little by little or how much at a time? Please help me. Thank you
Tues June 26 02:47 PM 2007, Kenneth F. Trofatter, Jr., MD, PhD responded:
Large cystic hygromas have a very poor prognosis, even if the baby is chromosomally normal. Even if the FISH results are reassuring at this point, your baby could have a chromosomal abnormality that was not detected by FISH. Your doctors have counseled you that this baby could also have a major cardiac malformation or other major abnormality that impedes return of fluid and lymph to the heart, even in the absence of a chromosomal abnormality. If the baby develops a condition called hydrops fetalis, this would indicate heart failure for any reason and the prognosis is usually fatal at that point. If the baby is chromsomally normal, has no other genetic or syndromic problem, has no major heart abnormality, and resolves the cystic hygroma, it may well survive and do quite well in the long term. I would recommend another ultrasound before 18 weeks. In many cases, major heart and other abnormalities can be identified by that time and you will have the final results of the fetal chromosome studies back to guide your decision. I am so sorry. It is difficult to be in your situation. If you have not seen a specialist in Maternal-Fetal medicine, I suggest you consider that. Thank you for reading and best wishes to you and your family.
Tues Aug 21 01:55 PM 2007, Ed said:
Doctor, on our 1st trimester baby scan we were told that baby had a 5mm NT (nuchal translucency). We hoped that the consultant could give us some better news on a scan a few days later, but we have the terrible news that it was not simply a wide NT, but a large cystic hygroma of 7mm, extend down the back to the lumbar region. She gave us an 85% chance of choromsome problem and cardiac anomalies even if normal. Also of possible intrauterine death. We are choosing to terminate, we can't wait in hope for a CVS or amniocentesis that MAY indicate the baby is chromosomally normal because it is more likely abnormal. But we have terrible guilt in termination too, as the baby seems ok at the moment. From what I read on the internet, there is a glimmer of hope that the babies do turn out normal. Is this just crazy hope or not?Ed
Wed Aug 22, 04:55:00 PM 2007 Kenneth F. Trofatter, Jr., MD, PhD said...
Although the prognosis is poor, there is always a "glimmer of hope." With your ambivalence and guilt related to pregnancy termination, why don't you have the CVS done and wait just a couple of days. Most labs can give you an answer in as little as 72 hours if they do a "direct prep" for the more common chromosomal abnormalities found with cystic hygromas. If the baby ends up being chromosomally normal, or has a potentially viable condition such as Turner's syndrome, the "glimmer" may improve if the baby survives the first part of the pregnancy....and even if it is chromosomally normal and succumbs, you can walk away having given it the "best shot" and it sounds like that is important for you. Just a thought. Good luck to both of you.
Dr T
Labels: amniocentesis, aneuploidy, CVS, cystic hygroma, first trimester screening
157 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…