Recurrent Cystic Hygromas
Tuesday, January 29, 2008
Kenneth F. Trofatter, Jr., MD, PhD
Dear Dr.T,
With my first pregnancy a cystic hygroma was found at 13 weeks. I had an amniocentesis done which came back normal for all genetic and chromosomal abnormalities. We went through all other tests that were offered and at 35 weeks the cystic hygroma 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 cystic hygroma of 6mm. Have you ever heard of this happening twice? I'm so nervous because I feel like we beat 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
As we have reviewed previously, cystic hygromas result from abnormal development of lymphatic tissue between the 6th and 9th weeks of gestation so that the normal drainage pathways either do not develop or are delayed in development. About 80% of cystic hygromas are found in the neck and appear as septated or nonseptated fluid-filled spaces along the back and sides of the neck – often in a somewhat asymmetrical fashion – and highly variable in size. If the drainage pathways eventually develop, the fluid collections will resolve and the baby may only be left with redundant skin in the neck area, classically relected in the ‘webbed neck’ seen in Turner’s syndrome (45 XO). If the drainage pathways never form, the baby may go on to develop obstruction of the internal jugular vein and eventually fetal heart failure associated with hydrops fetalis and diffuse fluid accumulation in the skin and body cavity spaces around the lungs (pleural effusions) and in the abdomen (ascites).
Most cystic hygromas are found in babies with chromosomal abnormalities – the most common being Turner’s syndrome (50%); trisomy 21 or Down syndrome (6.6%); trisomy 18 (5%); trisomy 13 (3.3%); and 47 XXY (1.6%). However, in recent years, we have also discovered that cystic hygromas may be an indirect indicator of major heart malformations and diaphragmatic hernias even in chromosomally normal children. Cystic hygromas may also be found in certain genetic conditions, such as Noonan and Roberts syndromes and in some cases of fetal alcohol syndrome. It is estimated that 15-25% of babies with cystic hygromas are actually chromosomally normal, but not all of these will do well. Indeed, if hydrops fetalis develops in a baby with a cystic hygroma, it is almost uniformally fatal.
Now to get down to Kristi’s question...”Can it happen again?” The answer is yes. It can happen by chance in subsequent pregnancies, and be caused by completely unrelated events, and there appear to be rare instances when it is the result of a familial inheritance pattern – most likely autosomal recessive. In 1990, Watson and colleagues (Prenatal Diagnosis 1990;10:37-40) described the case of a woman who had three consecutive fetuses with cystic hygromas and hydrops – two of which were confirmed to be chromosomally normal – however, none of these babies survived. Teague and colleagues (Matern Fetal Med 2000;9:366-9) reviewed the limited literauture on this subject in their discussion of another instance in which a 19 year old woman had three consecutive chromosomally normal babies that she lost with cystic hygromas and hydrops. More recently, however, and on a more upbeat note, Rotmensch and colleagues (Prenat Diagn 2004;24:260-4) described 18 families in which 18 pairs of siblings were affected by transient, nonseptated cystic hygromas detected during pregnancy. All women underwent amniocenteses and ALL babies were chromosomally normal. Furthermore, all babies had normal hearts, normal growth, no other physical abnormalities, and were reportedly developmentally normal following delivery.
So, Kristi, since you have had a baby with a cystic hygroma who has subsequently turned out ‘normal’, and you now have another baby with a cystic hygroma, my prayer for you is that this is simply the result of a familial inheritance pattern rather than a chance event (because if it is chance, then the risk of chromosomal abnormality is high). If you are fortunate enough to be one of those folks with a ‘familial pattern’ of inheritance where the outcome for the baby is good, then don’t be too hard on your doctors about not answering your questions because this is an extremely rare event! Best of wishes for the rest of the pregnancy, and let us know what happens, please!
Dr T
96 Comments:
At Tue Feb 05, 03:09:00 AM 2008,
Anonymous said…
I am 31 and 12 weeks along. My baby was diagnosed with cystic hygroma last week. The doctor said it was small. He also informed me that 60% of cystic hygromas have a chromosome abnormality. Once we are tested and if the test comes back with good results, when I am 18 weeks along we can have a structural test performed. I f that happens to come back with good resullts then my baby has an 80% chance of doing well. My husband and I are going to speak to a genetic counselor this week. We want to be well informed. We are both in the military and have health insurance and want every test conducted. We are troubled because we have yet to see the statistics our doctor gave us posted on the internet. We want so bad to read about positive outcomes. Please if you could, give us your opinion about the percentages.
At Mon Feb 11, 01:22:00 PM 2008,
Kristi said…
Dear Dr. T,
I just wanted to give you an update, I had my CVS test last Friday and the results came back today and all chromosomes are normal. I know I still have a long road ahead, but this was a huge sigh of relief. I We also found out that we are having another girl :). Thanks again for your great advice. will keep you updated as my pregnancy continues.
Kristi
At Mon Feb 11, 11:13:00 PM 2008,
CJay said…
I am 36 and have been living with Cystic Hygroma all of my life. My husband is active duty military. I am living proof there can be positive results from CH. More importantly, I have learned a lot about maximizing the benefits through Tricare and would LOVE to help share my knowledge of getting the services you need approved by Tricare which may include care outside of your area with doctors who have a special knowledge of this condition. I have an online support group for people with CH mostly families with children who have CH. Please contact me if you would like help with Tricare and connecting to a support group.
At Tue Feb 12, 04:32:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anonymous Feb 5: In general, the information your doctor has provided it accurate, presuming the diagnosis of "cystic hygroma" is accurate. Did your doctor tell you whether it was 'septated' or not. I usually tell my patients that more than 50% of septated cystic hygromas are associated with chromosomal abnormalities, some of which are lethal and some of which are not. In general, the larger the cystic hygroma, the greater the likelihood of fetal 'hydrops' (basically, heart failure), regardless of the cause and the poorer the prognosis. If your baby is chromosomally normal and has a normal heart or a non- lethal cardiac defect,there is about a 15-20% chance of the baby doing well in the long run, although there is still the possibility of a 'syndromic' or other genetic condition. Best of luck with everything and I hope things turn out well for you. Please let us know! Dr T
At Fri Feb 15, 04:47:00 AM 2008,
Kristi said…
Dear Dr. T,
Thank you for the case studies and for getting back to me. I had the CVS test done and all the chromosomes are normal. I will go back in 3 weeks for another high level sono, then in another 3 weeks for the level 2, then 2 weeks for the fetal echo. We are very happy with the results, but know we have a very long road ahead. I will certainly keep in updated on our progress.
Best regards,
Kristi
At Fri Feb 15, 10:02:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Kristi: So far so good! Thanks for letting us know and sharing with our other readers! Hang in there and keep your chin up. Dr T
At Fri Feb 15, 11:16:00 PM 2008,
Anonymous said…
cjay, My husband and I have just recently discussed long term insurance issues. It sounds like TRICARE has been very beneficial to you. I am really hoping that everything turns out positive for us and this discussion won't be needed. It is however nice to know that you are more than willing to inform me about the TRICARE procedures. I have a few questions for you personally. . . if you don't mind? Can you tell me what it is like living with CH? What health issues you deal with? Were you diagnosed with a chromosome or genetic abnormality? We have the amneo done on the 6th of March and just want the best outcome. We constantly think about the quality of life but hardly here about adults living with this. I just want to be more informed. The more I read, the less I panic. My husband and I have been reading more about the syndromes lately, wanting to know the long term effects. We are getting braver and more willing to except what the future holds. I would love the link to your website. Thank you!
At Sun Feb 17, 09:30:00 PM 2008,
Anonymous said…
Dear Dr. T,
I am 38 years old and pregnant for the first time (now 15 weeks). At 11.5 weeks the baby was diagnosed with a septated cystic hygroma and enlarged nuchal fold (3.3mm). The CVS results came back normal and the 14 week ultrasound revealed no obvious structural abnormalities. Given the high risks associated with septated cystic hygromas, we have considered terminating the pregnancy. We would like to know, however, whether the fact that there is currently no visible abnormality changes the risks we are facing. Is there anything we can rule out at this stage? If the baby were born without any structural anomolies, would the septated cystic hygroma itself affect his/her health? We are obviously very anxious and would be grateful for your advice.
At Fri Feb 22, 06:04:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To cjay Feb 11: Thank you for your comment and for sharing your story.If you are born with a cystic hygroma, the medical challenges may follow you the rest of your life. I am sure there are other readers who will appreciate the information. Best regards, Dr T
At Fri Feb 29, 05:24:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Feb 17: About the only thing you can rule out (probably, but not completely) is a chromosomal abnormality. An ultrasound at 15 weeks is not adequate to rule out certain congenital abnormalities, especially congenital heart defects. If the baby is chromosomally normal, has no major structural abnormalities, and no 'syndromic' (genetic) abnormalities, life may be more or lesss complicated after delivery. Please see the comment from cjay (Feb 11) that refers you to a site (Tricare) devoted to people born with cystic hygromas. Thanks for reading and best of luck to all of you! Dr T
At Tue Mar 04, 03:17:00 PM 2008,
Anonymous said…
I'm 38 and 11 weeks my husband and I found out last week that our baby has cystic hygroma. We had the CVS test done and the baby was cleared of any chromosome abnomalities. Next we are scheduled for the structural test followed by the heart test. we were told that if we're cleard of all of that then our baby has a 80% chance of doing well. We were told that we wouldn't know until the baby is about 3 if there's any problems such as autism, etc. Help...
At Wed Mar 05, 10:11:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Anonymous Mar 4: Based on what you have told me, I believe your doctors have given you accurate information. Can you tell me how thick the nuchal translucency measurement was and whether or not the 'cystic hygroma' was septated or simple? By the way, why did the question of "autism" arise? I don't know of any associations between cystic hygromas and autism, but if your doctors are aware of the same, I would certainly appreciate knowing. Best of luck to you! I am betting on a good outcome. Dr T
At Wed Mar 05, 11:55:00 AM 2008,
Anonymous said…
Hi Dr T. thanks for responding to me I'm anonymous March 4. Well I was wondering about autism since its on the rise. I didn't know what the 20% chance of what would be wrong with the baby... My doctor didn't give the size if the Cystic Hygroma but he said when we came back it would probably be gone since it was very small. So I guess my question is what could possibly be wrong with the baby if it clears the structural test and the echocardiogram...
At Wed Mar 05, 01:19:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Mar 5: I am betting right now that there is absolutely NOTHING wrong with your baby based on what your physician told you. Sometimes the NT measurement is hard to obtain and the external edge of the skin is confused with the amnion (the inner 'bag' of the 'bag of waters that is separated from the outer 'bag'(chorion) until later in first trimester). Please let me know if I am wrong! Again, best wishes and let us know how things turn out! Dr T
At Thu Mar 13, 09:43:00 PM 2008,
Anonymous said…
First of all, thanks so much for your website. It's so unnerving to go through this. Seeing and hearing the same questions many others have is a good support. In the several conversations I have had with OB's and the lack of knowledge they have about cystic hygromas is alarming. Did you specialize in this? Are you a high-risk prenatal specialist?
My big question is based on the FASTER study. Have you heard of this before? The statistics laid out for infants with no chromosomal issues is still concerning. We have passed the chromosomal issue and are waiting for the heart and structural evaluations in a few weeks. The statistics show there is only a 20%chance of a normal pediatric outcome, 25% chance of heart abnormalities, 55% of physical malformations. However the conclusive remarks indicate if we pass through the heart and structural issues, we are 95% clear for a normal outcome.
Also, if a baby was born with the cyst still in it's neck area, can it be removed at birth?
If a ch resolves in utero, how much does this decrease the chances of all of the mentioned concerns?
Sorry for all the q's. As many parents on your site, it's a crushing and devastating thing to go through.
And what's this about Asian's being dominant!?
At Tue Mar 18, 09:28:00 AM 2008,
Anonymous said…
i`m 23 years old,my son borned with large cystic hygroma (about 10*10 c.m),it removed by syrgery when he was 3 days, now he is 30 days & there is another cystic hygroma observed at his neck ,is there any medicin or solution for this??
At Wed Mar 19, 06:31:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Mar 13: I am a specialist in maternal-fetal medicine. I am well aware of the FASTER trial and have used the results of that trial and others in counseling patients on this site. The bottomline is that the more "normal" things a baby has going for it (including resolution of the cystic hygroma while still in utero) the greater the likelihood for a normal outcome. Attempts can be made to remove cystic hygromas and perform plastic surgery to improve the baby's appearance if necessary, but if the underlying reason is not addressed, they are prone to recurrence as mentioned in the comment following yours by another reader. Good luck to you and please let us know how things turn out. Dr T
At Wed Mar 19, 06:33:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Mar 18: Unless the reason for the cystic hygroma is corrected, repeated operations may be necessary to improve your baby's appearance. There is no "medicine" that will help at this time since cyystic hygromas are often the consequence of abnormal lymphatic drainage from that portion of the baby's anatomy. Best wishes to you. Dr T
At Fri Mar 21, 09:22:00 PM 2008,
Anonymous said…
Thank you doctor. I am "Anonymous from March 13th" I appreciate your feedback. As an update, I called the head radiologist to clarify if he could, whether or not the ch was septated or simple. Amazingly, he re-read what another radiologist stated as a ch and said it is acutally a nuchal thickening. Also, our CVS and FISH results came back with all looking normal w/o chromosomal abnormalities.
Things seems to look more promising. I am going back for my week 16 appt for another ultrasound to get an update. Could it turn into a ch? I heard with a nuchal thickening the chances for a normal pediatric outcome can increase up 98% What exactly are the effects of a nuchal thickenign on a newborn/child? Have you found this to be true in most of your patients with this? Do you have concerns with medical excessive u/s? What would you consider to be too much?
At Mon Mar 24, 05:36:00 AM 2008,
Anonymous said…
My husband and I are also dealing with having a cystic hygroma diagnosed at 9 weeks and a normal karyotype via CVS. I don't have much to add except the FASTER study is really the only concrete evidence that seems to be useful to help base any decisions. The FASTER study is 10x more useful than our genetics counselor and our ob/gyn combined when it comes to statistics and any type of advice. I can't believe that with something that seems to occur in 1 in 300-350 pregnancies that this is the only controlled study out there. They have known about cytic hygromas since the 1800's. We need to encouage that more research be performed on this diagnosis. We are at 14 weeks and the uncertainty of our baby's future is torture.
My only questions are, is there any research/knowledge regarding "is it worse to find a cystic hygroma at 9 weeks versus later like at 12 weeks?", does the size of the cystic hygroma have any clinical implications, and should I be demanding frequent ultra sounds because is there any correlation with when the hygroma resolves and clinical outcome?
At Wed Mar 26, 06:45:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Mar 21: So far so good. There is a wide range of 'normal' for the nuchal translucency, so your baby may well ahve no problem at all. It is unlikely to turn into a cystic hygroma. The next thing that you need to rule out is a cardiac malformation and if there is none, then there is a very good chance you have done a lot of worrying for nothing. With regard to "too many ultrasounds", all I can say is that there does not appear to be much risk and at this point, the reassurance they offer are worth any small risk. I did publish a post on ultrasound risks sometime in the past year, but I cannot remember exactly when that was. Some have correlated ultrasound exposure with left-handedness and I think that was what the post was about! Good luck to you and let us know how things turn out - I BET FINE! Dr T
At Wed Mar 26, 07:21:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Mar 24: I KNOW it is torture. The size and whether or not it continues to grow are more important when it was first detected. And, of course, also important is the underlying cause and whether or not the baby develops hydrops. Undr these circumstances, most doctors will offer you more frequent ultrasounds to look for evidence of fetal abnormalities, hydrops (heart failure), and to assess fetal growth. Even though the ultrasounds may not affect outcome, any problems identified before the baby is born that are potentially correctible, may help the neonatal care team prepare for delivery to optimize the baby's outcome. Good luck to you and please let us know what you find out along the way. Dr T
At Sat Mar 29, 12:40:00 PM 2008,
Anonymous said…
I have a question. I am 34 yrs old and currently 11 weeks along with my third pregnancy. I have a perfectly healthy 3 yr old daughter. Unfortunately, I lost my second pregnancy at 23 weeks. It was very difficult for me, especially since I had to go through labor after I knew my baby had died. After he was born, the OB found a large hygroma, and this was confirmed by the ultrasound we had done immediately prior to labor induction. We are very "natural" people. We had planned to not do any ultrasound during pregnancy, as long as all signs appeared normal, and we had planned for a home birth (like I did for my first daughter). This time around, I would like to do an ultrasound, for peace of mind, but I do not plan on terminating the pregnancy if anything is detected. I am thinking of doing it around the 20 week mark, but was wondering, when is the best time to find out with the least amount of uncertainty? I have no need of doing it early on, as I don't wish to worry and fret unnecessarily. So far my pregnancy is progressing well, much like my first. Also, I would like to know, what are the chances I will have another baby with cystic hygroma? We did do genetic testing with the second, but I became pregnant before we got the results. So now I don't want to get the results because I don't want to stress out too much, when there's nothing I can do and I'm already pregnant anyway!
At Tue Apr 01, 06:25:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Mar 29: It is highly likely that the baby you lost had a chromosomal abnormality. If I was going to pick anytime in a pregnancy to do one ultrasound, it would be at 18-20 weeks. Most (not all) major abnormalities can be detected at that time and your doctors can look for 'soft markers' of chromosomal banormality even if no major structural defects are readily identified. Good luck to you and please let us know how things turn out. The odds are in your favor everything will be fine this time. Dr T
At Wed Apr 09, 12:03:00 PM 2008,
Anonymous said…
Dear Dr. T,
I am 30 year old and i am 12 weeks pregnant with our second baby. My baby is diagnosed with cystic hygroma and enlarged nuchal fold (9.5mm). The CVS results came back normal. This gets me even more worried .My doctor mentioned that the NT is very large and is alarming.
So far the heart seems to be functioning well beat ranging from 150 - 170.
What are my chances of having a normal healthy baby? What are the steps that we should consider as next measures?
I am anxiously waiting for your answer.
Thank you.
At Tue Apr 15, 04:58:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Apr 9: If the cystic hygroma is very large, the baby could have a cardiovascular malformation, a syndromic problem, a lymphatic obstruction, or even a chromosomal mosaicism that was not detected by the CVS. The prognosis is not good, even if the baby is chromsomally normal, with intact survival rates in the range of 20% or less. But, there is a chance so hang in there a little longer. Nature has a way of making decisions for us when there really are bad problems. Sorry, I know you are going through a lot right now. Please let us know what happens. Dr T
At Tue Apr 22, 01:29:00 PM 2008,
Anonymous said…
Dear Dr. T,
I went for my u/s last Friday (12 weeks into my pregnancy) and it showed that my baby had cystic hygroma which was from the neck to the lower back measuring 7mm. We went for another u/s which a high risk pregnancy doctor did the same afternoon, and the doctor said the same thing. She also said, there is only a 15% chance my baby will turn out normal or that I might lose the baby. I was going for a CVS yesterday, but my husband said we shouldn't and just leave it all up to God and pray. This might sound silly and I might be getting my hopes up, but does the number of weeks matter if let's say I am around 14 weeks into my pregnancy when I had the u/s done? I think I may have miscalculated the first day of my last menstrual period.
At Tue Apr 22, 03:48:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Apr 22: I am sorry, but when a cystic hygroma is that large, the chance of survival is very poor, whether or not the baby is chromosomally abnormal. The CVS could give you the answer regarding chromosomal status right now, but letting "nature take its course" is also a reasonable alternative. If you lose the baby, I would recommend that you have chromosomal studies done after the baby is delivered for counseling purposes. I am so sorry and my heart goes out to you. By the way, sometimes miracles do happen! Dr T
At Mon Apr 28, 02:08:00 PM 2008,
Anonymous said…
Dear Dr. T,
Thank you for your response to my question (anonymous, April 22). I am just 27 years old, healthy, and do not drink, smoke or have not been taking any pills or any sort except for prenatal vitamins. My husband is the same way and no one in our family have birth defects. My Nuchal Translucency blood test came out abnormal and I am just wondering why this happened. What could have been the cause? Could it have been that I had a bad cold during the first few weeks of my pregnancy? I am just so confused why this is happening to me. Are my doctors accurate in saying that my baby only has a 15% chance of survival?
At Mon Apr 28, 02:53:00 PM 2008,
Anonymous said…
Dear Dr. T,
I am 14 weeks pregnant with identical twins. At my 9 weeks ultrasound, we found out that one of the babies (baby B) had cystic hygroma. The other baby (baby A) looks normal. We had a second ultrasound done at the Fetal Maternity Medicine at 13 weeks. The result was the same and the fluid already entered the heart and lung areas of the sick baby. I had CVS test done and it came back positive with Turner's Syndrome. However, I am not sure if my babies are really identical twins. My doctor said that they are in two sacs, with one placenta, but what is the odd of me having a fused placenta? Baby A looks very normal with no NT or fluid issue, but baby B is very sick. If they are identical, wouldn't both of them be sick? What is the odd that only baby B has Turner's Syndrome, but baby A does not have the disorder even they are identical twins? If baby A does have the same problem, will she have cystic hygroma further down the pregancy? We are very anxious and confused. Hope to hear your advice.
At Mon Apr 28, 02:57:00 PM 2008,
ccmom said…
Dear Dr. T,
I am 14 weeks pregnant with identical twins. At my 9 weeks ultrasound, we found out that one of the babies (baby B) had cystic hygroma. The other baby (baby A) looks normal. We had a second ultrasound done at the Fetal Maternity Medicine at 13 weeks. The result was the same and the fluid already entered the heart and lung areas of the sick baby. I had CVS test done and the result was positive with Turner's Syndrome. However, I am not sure if my babies are really identical twins. My doctor said that they are in two sacs, with one placenta, but what is the odd of me having a fused placenta? Baby A looks very normal with no NT or fluid issue, but baby B is very sick. If they are identical, wouldn't both of them be sick? What is the odd that only baby B has Turner's Syndrome, but baby A does not have the disorder even they are identical twins? If baby A does have the same problem, will she have cystic hygroma further down the pregancy? We are very anxious and confused. Hope to hear your advice.
At Mon Apr 28, 07:08:00 PM 2008,
Anonymous said…
I am 16 weeks and I just learned my baby girl has cystic hygroma and hydrops. What is the likihood of the baby surviving and being healthy? If the baby won't likely make it, what is the liklihood she will pass away in utero or will she make it full term? I just lost my son last year to Potter's Syndrome. At least with him I knew that the average delivery date was around 33 weeks and I went 34 weeks.
At Thu May 01, 05:27:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Apr 28 02:08: The primary causes of fetal cystic hygromas associated with hydrops are chromosomal abnormalities, cardiovascular malformations, genetic (or syndromic problems), and com=ngenital infections. There are some inheritable conditions where the babies are otherwise normal, but these are very rare in occurrence. If you were very sick early in the pregnancy, you might have your doctor screen you for cytomegalovirus, Epstein-Barr virus, and Toxoplasmosis infections. Unfortunately, from what you have told me, your doctor's prognosis of 15-20% survival is probably accurate. I am sorry. Dr T
At Thu May 01, 05:39:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To ccmom Apr 28: Hard call. It is not at all infrequent to have fraternal (nonidentical) twins to have a 'fused placenta'. If ultrasound indicates that the babies are MONOCHORIONIC (share a common outer membrane), diamnionic (have separate internal sacs), then they must be identical. Unfortunately, if they are DICHORIONIC, diamnionic, they could be either fraternal or identical. When Identical twins come about from a split very early in embryogenesis, they are more likely to be in this situation, but still often share a fy=used placenta. If the babies are identical, then both will have Turner's syndrome (45, XO), however, not all baby's with this chromosomal abnormality will have identical complications related to it. Some will have all of the characteristic external features, but no other major malformations and others may have severe abnormalities, including cardiovascular malformations, which might contribute to the development and size of a cystic hygroma. You can eventually find out if the other baby has Turner's as well by having an amniocentesis done, or you can simply wait to see what happens. Both babies (if the one survives) will need very careful ultrasound assessment performed later in the pregnancy to evaluate for malformations and fetal growth. Sorry for your predicament, I know things are difficult right now, but please let us know how things turn out. Dr T
At Thu May 01, 05:52:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous Apr 28 07:08: If your baby has hydrops associated with its cystic hygroma, the prognosis is poor. No more than 15-20% of these babies will survive the pregnancy. I am curious though. Do your doctors know why your other baby had Potter's syndrome? Lot's of different conditions can lead to nonfunctioning or absent kidneys and they all get lumped under "Potter's Syndrome." But Potter's syndrome by itself is NOT a disease and whenever bad things happen to a patient more than once where fetal abnormalities are involved (even if the abnormalities appear to be different), I can't help but wonder if they are somehow related. You might ask to discuss this possibility with a genetic counselor. Best wishes to you and please let us know what you find out and how things turn out. Dr T
At Thu May 01, 11:46:00 AM 2008,
Anonymous said…
Dr. T: On 04/12/08, you posted the following:
"If your baby is chromosomally normal and has a normal heart or a non- lethal cardiac defect,there is about a 15-20% chance of the baby doing well in the long run, although there is still the possibility of a 'syndromic' or other genetic condition."
Is this accurate? We have a baby diagnosed with a Cystic Hygroma. Chromosomes came back normal. I am now hoping that the hygroma goes away and that we see no hydrops. Assuming that future development is fine, are we still looking at only a 15-20% chance the baby will be ok? Also, if things do not go well, what are the chances the baby will make it to term with major cardiac problems versus not making it to term?
Thank you for your time.
Chad
At Thu May 01, 01:22:00 PM 2008,
Anonymous said…
Dr. T. I just want to thank you for your site. I am also 31 and now 14 weeks pregnant (first pregnancy) and my baby was diagnosed last week with CH. My husband and I have been searching the internet for information. Your site and your responses give us the best information. We are praying for a miracle and will cling on to that belief. I appreciate that your responses to everyone are both honest, yet not completely dismal. It seems to me that you are honest with yet the belief there can be hope. I hope that I am reading your outlook correctly because I appreciate your site. Sounds like you are busy and your time to people in our situation is valuable beyond measure. I believe you will be rewarded immensely.
I guess I only have one question. What can a fetal-maternal specialist provide? My obst says we will get all test results and then just monitor until later and then maybe have specialist consulted. I feel like I should get consult now w/ fetal maternal specialist to make sure I am doing everything possible. Is this premature? Another question: why is there no in-utero surgery to remove the fluid? this is clearly optimistic, but seems that with our modern advances that it would be possible to attempt to remove or diminish the CH to avoid the fetalis hydrops? I suppose this is optimistic to even think of, but wondering your thoughts on.
Thanks again.
At Sat May 03, 07:29:00 PM 2008,
Anonymous said…
Dr. T - A 5.4mm cystic hygroma was diagnosed via ultrasound at 13wks 5 days. CVS came back normal. Our genetic counselor cited the FASTER study by first author Malone and said our chance of having a healthy baby is now at 50%, while chance of physical defect is approximately the same. The study showed that 22 of 65 pregnancy with normaol karyotype resulted in healthy birth and 22 of 65 resulted in physical anomoly. Does this statistic sound correct to you? I have read your posts that the chance of healthy birth is only 15%, and I am trying to understand this discrepancy. Finally, how does the prognosis change for septate CH vs. non-septated? What is the "cut off" point at which increased nuchal translucency become CH - how many mm?
At Tue May 06, 04:21:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Chad May 1: The discrepancy comes from whether or not the baby has HYDROPS (usually secondary to heart failure or severe metabolic disturbance under these circumstances). Even if these babies are chromosomally normal, the out come is very poor. If the baby has a simple cystic hygroma and no hydrops and is chromsomally normal, the prognosis is much better, probably more in excess of 50%. Please let us know what you find out along the way and how things turn out. Dr T
At Tue May 06, 04:26:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous May 1: I am certainly biased, but I suggest you see an MFM specialist now. Depending on your circumstances, there may be other diagnostic studies that might be appropiate and they are in the best position to offer you ongoing high level ultrasound evaluation of the baby, to answer your many questions, AND counseling as needed.
The problem with the cystic hygroma is often not the fluid itself, but why the fluid is there in the first place. Therefore, just draining it will probably not work and may actually harm the baby. Your MFM will be able to explain that to you in more detail! Thanks for reading and I wish you the best. Let us know how things turn out. Dr T
At Tue May 06, 04:33:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous May 3: Babies with cystic hygromas and hydrops have the poor outcomes, even if they are chromosomally normal. It is those babies that have only a 15-20% chance of ending up okay. Septated cystic hygromas have a very high rate of aneuploidy for reasons that are unclear to me. There is no absoluet 'cutt-off' for what is a cystic hygroma and what is not. We start worryng whn the NT measurement starts getting > 2.5mm and we routinely offer invasive diagnostic study when it is > 3.5 mm. In between depends on the counseling, other concerns, and patient's wishes. Wish it was more black and white, but that's the business we're in - lots of shades of gray! Good luck to you and I hope everything turns out fine! Dr T
At Thu May 08, 08:58:00 AM 2008,
Stacy D said…
Dr.T- I am a 29 year old in my second pregnany. My first pregnancy ended in a missed miscarriage at 13 weeks (baby measured 10weeks) due to triploidy.
I am now almost 15 weeks in my second pregnancy. I went in for an ob appt. and ultrasounds at 12 weeks when both an omphalocele and a cystic hygroma measuring over 8mm were found. All of the CVS testing, including additional testing for DiGeorge Syndrom, was normal.
Any chance these two things could resolve themselves? OUr genetic counselor gave us a prognosis of a 10-15% chance of a positive outcome. Your thoughts?
Also, we would never terminate a pregnancy. So I am wondering, if the baby passes on his own in utero, at what point will a doctor recommend delivering you versus doing a d&c? Would having two d&c's complicate further pregnancies for me?
Thanks for any information you have to offer.
At Thu May 08, 09:19:00 AM 2008,
Stacy D said…
This post has been removed by the author.
At Fri May 09, 03:18:00 AM 2008,
rachael said…
I am 25 years old. With my first pregnancy, our boy was diagnosed with a large cystic hygroma,his condition got worse so we had a termination at 16 weeks.My 2nd preegnancy i had a missed miscarriage at 10 weeks. They also found some fluid on the babies neck when we had tests done. Now I'm 15 weeks pregnant with my 3rd baby and he also has a cystic hygroma measuring 9.2mm. So far they have told us that his brain looks abnormal and his kidneys look abnormal.We cant believe this has happened to us again for a 3rd time. All chromosomes are normal. Me and my partner had our bloods taken after the 2nd pregnancy ended to see if the was something wrong with our genes but the bloods came back fine and we were told it was just bad luck and next time it would be normal but it is not. Now they are saying this is not normal for this to keep happening, it is probably due to genetic syndrome of unknown identity.I really don't know how i am going to get through this again. Will me and my partner ever be able to have children together. He already has children and theyb are ok, is there something wrong with me? In desperate need of some advice.
At Fri May 09, 10:58:00 AM 2008,
amrisser said…
Cystic Hygroma: our pregnancy blog, some hope for those in need...
At Fri May 09, 07:54:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Stacy D: I am concerned that your baby still may have a syndromic (genetic) problem of some kind. Do you have any medical problems such as diabetes? If you lose the baby, you do not necessarily need to have a D&C. A medication called misoprostol is very effective at inducing labor even very early in pregnancy under these circumstances. Best wishes to you and let us know how things turn out. Dr T
At Fri May 09, 07:57:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Rachael: Please read the post under which you left this comment. There are familial (genetic conditions) that lead to recurrence of babies with cystic hygromas, but in some instances, these babies are completely normal otherwise. This is nothing you have any control over so please do not kick yourself. Dr T
At Sat May 10, 03:44:00 AM 2008,
Stacy D said…
Dr T- Neither my husband or I have any medical problems that came u pin my regular prenatal health history or when meeting with the genetic counselor. I know that CVS doesn't test for individual genes, but could it be that he or I are silent carriers of some gene mutation that could cause something like this? Or, can genetic syndromes be random things that happen at conception or in early fetal development?
We had a prenatal appointment yesterday, and our little guy must be a fighter, as he had a strong heartbeat of 166 bpm. My doctor did say that if we lost the pregnancy at this point, she would recommend having me deliver so that they would be able to autopsy the baby in order to pinpoint what is causing the cystic hygroma and omphalocele.
We have a sono on May 20 and a fetal echocardiogram on May 27.
Is there ever a chance that a cystic hygroma of this magnitude can correct iteself?
At Sun May 11, 05:30:00 AM 2008,
Stacy D said…
This post has been removed by the author.
At Tue May 13, 06:23:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Stacy D: Genetic problems can be either "new mutations" or the result of a bad combination of genes carried by you and your partner. In most instances these genes are 'recessive' and they will not affect either of you. There are situations in which the cystic hygroma stabilizes and/or regresses, so the longer the 'little guy' fights, the better his chances. I sincerely wish you the best. Dr T
At Thu May 15, 04:12:00 PM 2008,
Anonymous said…
I came across this site by accident and I felt very compelled to post a comment. I was born with a cystic hygroma almost 32 years ago. The malformation is on my left hip and extends from just below my armpit to my hip bone. Thankfully, I have had no problems with it. If anything, it's really only been a cosmetic thing for me. It bothered me a lot while I was younger but I don't even think twice about it now. It has not kept me from doing anything in life. I gave birth to my first child in September and the scar tissue stretched just fine. I have run a marathon and had no issues with my hip even when running between 40-50 miles a week. I just want parents out there to know that it isn't the end of the world. I know every situation is different, but I have been very lucky not to have any problems with my hip at all. I hope reading this helps parents out there understand that the outcome of a cystic hygroma isn't always going to be bad. Good luck to everyone out there!
At Fri May 16, 05:48:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous May 15: Thank you for sharing. There are MANY readers out there who will find and appreciate your comment. Kind regards,
Dr T
At Thu May 29, 01:58:00 PM 2008,
jk1 said…
Hi Dr T,
I am 37 years old and 12 weeks into my first pregnancy. I had my first ultrasound last week at 11 weeks and another ultrasound this week. According to the week 11 ultrasound, my baby has a swelling on the back of its neck (I do not know the exact measurement). The radiologist suggested cystic hygroma and a follow up ultrasound. During this week’s ultrasound, the radiologist was present and said the swelling/growth had disappeared. I have another ultrasound next week as they are having difficulty obtaining measurements. I have not yet had genetic testing. Can cystic hygroma spontaneously disappear in a week’s time or is it more likely that they either can’t see it or the swelling was something else? Your help is much appreciated.
At Thu May 29, 05:36:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To jk1 May 29: What they saw was probably not a cystic hygroma. They probably confused the unfused amnion with the border for the baby's neck. Let me explain...
The membrane that delineates the "bag of waters" is actually made up of two layers - the outer being the chorion and the inner being the amnion. Usually by late in first trimester, the amnion has fused with the chorion to form the single sac. It is very easy to misinterpret the unfused amnion as the skin of the baby's neck and back giving the appearance of a large cystic hygroma. Hopefully, that's where the confsion lies in your case. It would be very unusual for a large cystic hygroma to have resolved over the course of a week this early in the pregnacy. Best wishes and hope things turn out great! Dr T
At Fri May 30, 10:27:00 PM 2008,
Anonymous said…
Hi, my daughter (now 10 months) was born with a cystic hygroma on the right side of her neck. We didn't find out about it until she was examined at less than a day old by a pediatrician, before i was dismissed from the maternity ward. This surprised us; we had never heard of ch before. CH is all she seems to have (no chromosal abnormality, no syndrome). Also, although we were told to watch her breathing and eating as the CH may obstruct either or both, she thrived in every which way. She has always been slightly above 90th percentile in height, weight and head circumference. The only thing i had to do differently for her was nurse her so that her CH did not press on her neck, which meant the 'football hold' which always required that i have a bunch of pillows handy to prop her on. I had several US (at 7 weeks, 20 weeks, and 5 or so after 34 weeks for the Fetal non-stress test). No one told me about it. I'm assuming it was too small to detect? We are still learning a lot about her condition. Anyway, it got much bigger when she was around 4 months old, and remained the same size at 5 months. Recently, at the beginning of May, before she turned 10 months, her ENT surgeon, who we had been seeing regularly, said it decreased by more than half the size from January, and she has a lot of "loose skin," which she will be able to grow into. We take this, and what we observe, as an answer to prayer. From the literature our ENT surgeon has given us, it is reported that in 15% of ch cases, there is spontaneous disappearance of CH. However, our ENT surgeon says it is actually greater than that. I do wonder though, what is published on the percentage of these cases that go away on their own, only to reappear later? Although i believe she is healed (some type of draining going on?), i'm wondering if such a statistic has been documented before. We had been told that she would need an MRI around 1 year and will probably no more about what is going on internally with her then.
At Tue Jun 03, 12:02:00 PM 2008,
Anonymous said…
phi i was 13 wks pregnant when me and my husband were told at our 1first scan that our baby had fluied on the back of neck 2days later we had a another scan and it should that the baby had cystic hygroma in the lungs and all over body. the next day we had a another scan by this time i was 15wks we were told our baby was very sick. even to make it another day we found out the baby was a little girl she died inside my womb at 16wks. we have 3kids together what went wrong and what are the chances of this happening again. tracey
At Wed Jun 04, 06:14:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous May 30: Since I do not care for babies after delivery, I really do not know what the natural history is for CH, especially, small ones that were not even detected prior to delivery. My sense is that spontaneous involution probably does occur more often than realized, but that there is always a chance for recurrence for whatever reason it is there to begin with. Thank you for sharing your story. I know it will bring hope to some readers in a similar situation. Best wishes. Dr T
At Wed Jun 04, 06:20:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Tracey: Did you have chromosomal studies done on the baby? My bet is that the baby girl had Turner's syndrome (45 XO) and that actually has a very small chance of recurrence. It results from chromosomal nondisjunction during meiosis right before the egg is hatched just like in most cases of Down syndrome - only in this case the baby ends up with only one female X chromosome. Sorry for your loss and best wishes to you. Dr T
At Mon Jun 09, 02:18:00 PM 2008,
Anonymous said…
i`m 23 years old,,my first baby was borned at 23/2/2008 with large cystic hygroma at his neck,, the doctors made a surgery for him ater 2 days from birth for some of the cyst. & leave some of it under the nose,,,but now after 4 months he is still in hospital there are some problems in breathing,,he is on ventlator machine,,the doctors said that it may be (laryngomalacia) & other doctor said that there is still some cyst. on the larynx & become larger ,,,they said that he has reflux also & maid another surgery for him (for reflux & gastrotmy)..now they want to make another surgery for him in the larynx & put a tube that called i think(truckstomy),,,i don`t know what to do,,,& why he is facing such problems after the surgery?& if i agree on that surgery or not??
At Sat Jun 14, 10:59:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To anonymous June 9: Because the baby has been on the ventilator for so long, they want to do a tracheostomy so that the baby can be placed on the ventilator through it neck rather than through its mouth. Please discuss the reasons for this with the doctors. They are in the best position to make these decisions for your baby and if you question their choices, you do have the right to request a "second opinion" first. Best wishes and sorry for all the problems your baby has had. Dr T
At Mon Jun 16, 09:17:00 AM 2008,
Michelle Wells said…
Michelle Wells . . .
My daughter was diagnosed with a cystic hygroma at 15 months. Not one of the 5 sonogram reports mentioned her having a hygroma. Took us over a year to find a doctor that would preform surgery. Everything eventually worked out well. Found a wonderful specialist at Children's Hospital in Philly. Surgury was 4 hours long, 3 times longer than it should have. The cyst was infected, and much more involved in nerves than the MRI showed. The MRI was only 4 months old, and this thing had changed drastically. The doctor was able to remove 95%, the 5% left was on her vocal cord. The Dr. did not want to take the chance of damaging her vocal cord. Well, it has been three years since the surgery. The cyst was scarring down, not gone, maybe the size of a lima bean. She has had two flare ups since, and this recent one which is only two weeks ago is not going away. In fact, it seems to be growing back the exact original way it did. She is on her second anti-biotic, and feeling very uncomfortable. She even started running 102 fever after being on two antibiotics. Thank goodness that only lasted a couple of days. My concern now is, is this going to be a lifetime thing? In three years, it hasn't scarred down a bit. Honestly, what can I expect now? My hopes are down now. Any inspirations? Any positive feed back? Thanks much.
At Mon Jun 16, 10:41:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
Hi Michelle: I know things have been rough, but you are in the best of hands at the Children's Hospital in Philadelphia. I know (and readily admit) when I am out of my league and in this case I am! Complications with cystic hygromas, especially when they are in the location that your child has hers, can be lifetime problems and then at times, they resolve spontaneously, and never recur. There may come a time when the dcotors feel the risk of complications from residual disease is worth the risk of vocal cord damage and try another operation. I pray it does not come down to that. Thank you for writing and I am so sorry I cannot offer more help. Best regards to you and yours. Dr T
At Fri Jun 20, 03:45:00 AM 2008,
Whatever said…
Hello
I am in the UK and firstly can I say how great this site is, this is the most information I have been able to find on CH's!
Our baby was diagnosed as having a CH of 4.3mm at my scan at 13+2. We decided to have a CVS, the results of which came back normal.
I had a scan at 16+4 and the CH had totally gone, the heart looked normal from what they could see - 4 chambers and obviously a heartbeat. spine etc all looked OK. The midwife commented that if she hadn't had know the baby had had a CH she would have thought it was a perfectly normal baby.
We have a detailed cardiac scan on Tuesday when I will be 21+3. As the CH had disappeared by 16+4, does this make our odds of no cardiac malformation any better?
Are there many heart problems that can't be 'fixed' when the baby is born?
Many thanks
At Sat Jun 21, 07:11:00 PM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To whatever June 20: Ever day that goes by improves teh odds that your baby is going to be just fine. Most major congenital heart defects can be detected by ultrasound prior to delivery, especially if there is a good reson to look hard for one. The prognosis and tretament depends on what the defect is but, hopefully, you will not have to have that discussion with your doctor! Good luck for the rest of the pregnancy and thank you for sharing. Please let us know how things turn out! Dr T
At Mon Jun 23, 05:42:00 AM 2008,
Michelle Wells said…
Hello Dr. T
We have had an exhausting week since I last wrote about my child's hygroma. Thank you for your positive words.
I took my daughter back to CHOP on Friday, after two more visits at the pediatrician. We found out that my daughter, Lauren, had numerous inflamed lymphnodes surrounding the cyst in her neck. Lymphnodes act as a filter, is the understanding I got from the specialist. Although infection did get to the cyst, we were able to avoid it from blowing up. Due to us paying attention so much we were able to get her treated quickly, before that could happen. The specialist tells me it could be a couple of months before the lymphnodes go down. That's nerve racking. But being abreast of the situation, and paying attention to those little things, helped us actually prevent something that could of turned out to be a lot worse.
Anyhow, Lauren will have to go back for more frequent check ups for the next few months. And will also have to have another MRI done.
Are there people who live with these CHs all their lives?
Thanks for the positive feedback.
At Tue Jun 24, 12:59:00 PM 2008,