Genetics Community
abnormal nuchal fold test
About This Community:

This patient support community is for discussions relating to a person’s predisposition to a variety of medical conditions such as Alzheimer’s, blood-clotting disorders, breast cancer, cystic fibrosis, diabetes, Marfan syndrome, and Ehlers-Danlos Syndrome.

Font Size:
A
A
A
Background:
Blank
Blank
Blank
Blank Blank

abnormal nuchal fold test

I am 28 yo and this is my first pregnancy. I just got my nuchal fold screening and my dr. told me that the baby has a cystic hygroma of 7mm, 0-3mm being normal. he then highly suggested that i get the CVS test done to see if the baby will have downs or trisomy or any other chromosome abnormalities. so we just got it yesterday, now we have to sit and wait for the results. has anyone had a similar situation and the CVS test came back normal??  im a mess about this and i cant stop thinking about it....
Related Discussions
14 Comments Post a Comment
Blank
419309_tn?1326506891
CVS can detect most common chromosomal abnormalities, such as Down Syndrome or other trisomies, and although there is an association between cystic hygroma and abnormal chromosomes, in answer to your question, yes, there ARE cases of cystic hygroma in the ABSENCE of chromosomal abnormalities.  If your CVS comes back normal, your doctor should still be following you closely with ultrasound, and, if your pregancy continues, doing a detailed "level II" ultrasound and fetal echocardiogram to check the baby's heart between 20-24 weeks. Regardless of whether your CVS results come back normal or not, I hope your doctor refers you to a medical geneticist to discuss these findings.  Best of luck to you.
Blank
274927_tn?1242835780
I'm sure you've gotten your test results back by now, but I just wanted to post and tell you my story. My baby had a nuchal fold of 6mm at 11 weeks. She was then diagnosed with a cystic hygroma. I had an amnio done and it came back normal. I then had a fetal echo done and that too seemed fine. The hygroma slowly reabsorbed and by 27 weeks was completely gone. On March 3rd I gave birth to my little girl and she's perfect. She has a little excess skin on the back of her neck from the hygroma, but so far nothing else. I'm taking her to get another echocardiogram done, just to be sure and to give me piece of mind. I hope your test results came back negative....and I hope my story can at the very least give you some hope. Take care.....
Blank
Avatar_n_tn
I cried for weeks following a measurement of 6.5mm for our first son. My wife and I decided that we didn’t need any more tests to break our hearts. We knew we would love our baby no matter how he came into the world. Our son was born 100% healthy with no "chromosomal abnormality". Everyone should know that the Nuchal Fold test is VERY inaccurate at identifying issues in patients, and that it is being used as a screening test to push families towards expensive genetic testing in order to attempt to force insurance companies to pick up the bill as a typical expense. If/when we decide to have another child, we will refuse this test. DO NOT FREAK OUT OVER THE RESULTS OF THIS TEST ALONE. It is only an indicator that needs much more accurate tests to back up any findings.  Not enough people come back onto these boards with positive stories. Let everyone know that this test alone does not sentence your child to a less than “normal” life.
Blank
Avatar_n_tn
Hi all, i cant help but be totally devastated over the results of my nuchal fold scan. i'm considered high risk, even through i'm only 27yr old. we are 13 weeks now and i just love and adore my baby. we will be going to discuss the result with our Dr on Monday. i cant help but feel so anxious and sad about this, but i need to keep strong to look after our precious gift till we hear more!
Blank
Avatar_n_tn
I went through the same thing in Feb & March 2008.  I was 18 weeks pregnant had a triple screen test and it came back that I was at high risk of carrying a baby with down syndrome. I went to a specialist to find out what I was having and to also get further testing with the triple screen results. With the ultra sound, they found a large hygroma on the back of the baby's neck, and SHE also had hydrops. I allowed them to do an amnio and it comfirmed Turner Syndrom (syndrome). I was told from that point that I would lose the baby. I was sent home and told that if she stopped moving, to get to my doctor right away, and if she continued to move for the next two weeks, they would have me back to check her heart. With that being said, I was so dissatisfied with the care I was given, I went to another doctor which gave me another untrasound, and showed the hygroma was now even larger and she was filled with fluid.  Her heart showed that she had Hypo plastic left heart syndrome, meaning the left side of her heart was smaller than the right, and I was told she was in conjestive heart failure and her heart would eventually stop.  They were surprised that she hung on for as long as she did, but I carried her till I was 22 weeks, then I had to be induced and gave birth.  She weighed 2lbs and was 11 inches long.  Almost 1/2 of her weight was fluid, and it was a very hard to have to see her in such a condition.  But we were able to spend time with her, have a proper burial and so forth, which helped some.  I'ts  still to understand why something like this had to happen.  I have a four year old daughter that I had in previous relationship, which she is fine, and I never saw this coming.  I'm not sure if the worry will ever go away, but you need to try and focus on the positives in your life and go from there day by day.  I'm now trying to get pregnant again, it hasn't happened yet, but I'm so scared something like this will happen again.  But I try and remember that god won't give you more than you can handle.  I don't know if this is true, but I sure do try to believe it.  God bless you, and I will pray for all of you out there that have been through the same thing.
Blank
Avatar_n_tn
I am 42 and just came from my 12 week scan.  At 12 weeks and 4 days, the nuchal fold was 3.2 mm; and I was swiftly whisked in for CVS, as with my age and the NT being 3.2mm, my adjusted risk was 1:3 for Trisomy 21.  This was absolutely devastating.  But frankly I'm not sure if it could be as high as 33%.  1 in 3....sounds a bit too high.  I've been reading up and my partner and I decided that we wanted a diagnostic test in any case.  But I never expected to hear a statistic like 1 in 3.  We now wait for 4 days to get the conclusive results on whether it has a common genetic disorder.  The CVS wasn't too painful and I understand all the risks.  It was really amazing to see the fetus moving around so much and stretching his legs; I would feel very sad to get a bad result.  I guess it has to happen to someone.
Blank
Avatar_n_tn
I'm 44 and after a long struggle with several rounds of IVF have become pregnant naturally. Given my age I've just had a Nuchal Fold scan and CVS done. The scan gave a result of 1 in 2 the highest and worst it can be. The nuchal translucency measured 4.3mm.  The blood flow also indicated potential problems. I now await the CVS results for which I should get some answers in the next 3 days.
I know I should be resting but to be honest I'm so on edge and nervous that that is not going to happen.So i'm on the web doing more research and wanted to say that its been very comforting to read of other peoples experiences in what is a very difficult thing to come to terms with.I have to say that i agree that the accuracy of these tests does rest with the person doing them.The nuchal scan result recorded an absent nasal bone but from the scan done for the CVS the nasal bone could be seen.
Also knowing your not alone makes it some how easier to bear. Good luck to everyone whose in this position.
Blank
Avatar_n_tn
I was told yesterday that my baby's nuchal fold is 3.2 and I'm going to have CVS tomorrow.  I know that chances of healthy baby with abnormal nuchal fold is only 3%.  What else besides abnormalities can cause an abnormal nuchal fold?
Blank
Avatar_n_tn
hi. im 25 and had my NT scan yesterday. My result was 3.5mm fluid. Had my blood tests after the scan and now waiting for my result but they said im most likely to be high risk. Very worried and confused as im only 25...anyone else in a similar situation?
Blank
Avatar_n_tn
hiya im nearly 24 and just had a scan at 13 weeks they have put my baby at  high risk ov downs syndrome because babys neck fluid measured 3.20mm the adjusted risk is 1 in 96,is anyone in the same situation as me?i am very scared as ive got the CVS test next thursday and praying everything is ok  
Blank
Avatar_f_tn
Can I just say I am mortified by each and every reaction to the prospect of a baby with possible downs. Your baby is your baby and will be perfect to you. My baby has downs and I would change her for the world. We live in the 21st century, you should be ashamed of yourselves
Blank
Avatar_m_tn
This has nothing to do with the prospect of having a child with possible downs but rather the possibility of something being wrong with your child.  As a parent we all want the best for are children. I am certain that you were worried  yourself when you  found about your baby.  This is a normal reaction for all expecting mothers. So instead of judging maybe you can  write about your experience  to encourage these parents.  
Blank
Avatar_m_tn
I want to thank all parents who shared their experience.  I am having CVS procedure next week.  I am anxious and nervous.  The Nuchal Fold scan showed 4.3 mm.  Please keep posting this really does help parents who are in the same situation.
Blank
Avatar_m_tn
Thanks for posting your experience..
Blank
Post a Comment
To
Blank
Weight Tracker
Weight Tracker
Start Tracking Now
Genetics Community Resources
RSS Expert Activity
233488_tn?1310696703
Blank
New Cannabis Article from NORTH Mag...
Jul 20 by John C Hagan III, MD, FACS, FAAOBlank
242532_tn?1269553979
Blank
3 Reasons Why You are Still Binge E...
Jul 14 by Roger Gould, M.D.Blank
242532_tn?1269553979
Blank
Emotional Eating: What Your Closet ...
Jul 09 by Roger Gould, M.D.Blank