Nuchal Translucency Ultrasound - Scary Results

Updated on November 20, 2009
M.M. asks from Cape Neddick, ME
7 answers

Hi there,

I am a 35 first time mother to be and also will be doing this on my own. I just had my 13 week ultrasound to test for the thickness of the fluid in the nuchal fold and it measured at 7mm. This places me at a 1 in 3 chance of having a baby with some sort of genetic abnormality. I know this is alot higher than even what might be considered the average for someone in a high risk group and is still even higher than somsone having a baby in their 50's. I have done extensive research already on this test and know all about the cut offs for normal vs. high risk findings, the flase positives and the possible repercussions of further testing. I am scheduled for an amnio in 2 weeks once I hit my 15 week mark which is the earliest they can do it and then I only have to wait a few days to get the results back for the major trisomy's and other probable conditions... What I'm wondering is if there is anyone else out there who has had this test done and measured as high or higher than 7 mm and still had a healthy 'normal' baby? I've been finding alot of comfort in reading about the false positives for this screening test but most people seem to only be measuring at 4 mm or less. Yes, I am scared to death but looking at the ratio I still have a 66 percent chance of having a healthy baby. I guess I'm just seeking some similar stories to see how things turned out for others... for good or for ill.

In response to questions regarding the CVS (I'm in Nova Scotia, Canada by the way... I just used a US zip code so I could become a member here)... the doctor did offer me both amnio and CVS options but the CVS results take 4 weeks to come back and I would end up waiting longer than if I wait the extra two weeks to have the amnio done as the amnio has a quick turnaround result for the more basic/common genetic disorders. Then I have to wait for a full karyotic screen which comes in about two weeks after that.

Thank you everyone who has responded so far. It's been really challenging to find people with similar stories and while I am certainly trying to find lots to distract myself with (work, my dog, avoiding talking about it with my mother too much (lol)), it brings me much comfort to know that not only am not the only one who is (has) going through this sort of thing. I just keep thinking I have a 66% percent chance of a healthy baby which is still pretty good!

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A.D.

answers from Boston on

M.-
When I was pregnant with my 10 month old my ratios were 1 in 7 for trisomy abnormalities and 1 in 10 for downs. I had a cvs test...they weren't able to gather enough fluid, so then had an amnio...little guy kept moving around so they stopped and did it 2 days later. End result was no genetic abnormalities. My OB had me do a fetal ecocardiogram after the amnio because she said sometimes heart defects could trigger these results. That came back fine too.
On new years eve I gave birth to a beautiful heathy baby boy.
I remeber the waiting to get the tests done and then to get the results...it was the purest form of emotional pain. I too was alone...seperated from my husband soon after I found out I was pregnant.
This will be a hard time for you and my only suggestion is to try to distract yourself. I did a lot of word finds and talked a lot to my family and friends. There's a support website called trisomy.org and the women on there are sooo supportive and knowledgeable.
Many of them have sad stories. But I found comfort in chatting with these women.
Hang in there. You'll be in my thoughts as I remember the hurt and worry very vlearly.
If there's anything I can do, please let me know.
-A.

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C.S.

answers from Boston on

Hi M.,
I went through the same thing with my last pregnancy. I didn't measure 7 but did measure 6mm. I don't remember the exact % they gave me but they said it could either be down syndrome or other chromosomal abnormality or a structural issue, most likely with the heart. Needless to say, it was a very stressful time. We had the amnio at 15 weeks, a thorough ultrasound at 18 weeks and then a fetal echocardiogram at something like 23 weeks. Everything came back normal. Our son is almost 3 now and is healthy. A similar thing happened to a friend of mine. Both of her pregnancies measured with thick nuchal folds and both her children were born healthy.
If you have any questions about my experience or want to talk, feel free to contact me.
C.

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J.M.

answers from Lewiston on

I also had an ultrasound come back with a very thick Nuchal fold. I did the same thing you are doing, researching stats, reading other stories. They had a genetic counsler come in to talk to me and prepare me as well. Doing this test made the rest of my pregnancy very stressful. I did not do the amnio because I am younger and my husband did not want to. You will be happy to hear we have a healthy baby girl that is now almost 4 months old. She is a chunky baby and just had a thick fold on her neck! I know its easier said then done, but try not to stress. The nuchal fold is not the only indicator of problems, its just one of many ways they use to look for genetic abnormality. I also would not do the testing again because there are too many false positives out there. You just have to keep believing your baby is fine and not any testing will change that.
Good luck and I wish you all the best

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M.C.

answers from Hartford on

I was in your place a year ago. My baby measured at 8mm (1 in 2 chance of some sort of deficiency). After the ultrasound, they led me into a room with a genetic counselor who completely scared me with thoughts of downs syndrome and turner's syndrome if it was a little girl. You will be relieved to know that my son was born last January with NO PROBLEMS WHATSOEVER. He is now a beautiful, happy and healthy 10 1/2 month old.

I honestly hate those tests because the rate of false positives are so high. I've decided that when/if I have another baby, I'm going to skip the test all together because it just causes stress. That being said, I did opt to have the amnio after the screening. Although I knew I would never get rid of the baby if he did have problems, I felt that I should be prepared in case he was special needs. The amnio is not painful and has a very low (almost none at all) chance of hurting the baby.

I know what you're going through and I know that nothing I can say will make you any less worried for your baby, but just know that there are a ton of people out there who were in your position and now have beautiful healthy babies. I don't know if you are a person of faith, but try not to get wrapped up in statistics and 1 in 3 chances because God is the ultimate statistician. When I first found out about my test, I did a lot of crying the first day and then decided to put it in God's hands. I wish you all the best.

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T.Y.

answers from Boston on

Hi M. - I am so sorry for the worry and stress this must be causing you.

Have you talked to your doctor about doing a CVS test? I am 39 years old and the procedure was an option for me because of my age.

The CVS test (The CVS test is a genetic screening - the same as an amnio but with the CVS they can test much earlier in a pregnancy because they take a sample of placental cells rather than amniotic fluid) It is usually done between 11-12 weeks, but some centers will do it at 13 weeks. I am just surprised that your doctor didn't recommend the CVS test rather than have you wait for the amnio.

Hope everything turns out fine and you deliver a healthy, happy baby.

T. Y
SAHM of 4 (9yrs, 7yrs, 23 months and 3 weeks....)

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D.P.

answers from Boston on

M.,
My closest friend got those results (1 in 3 chance of chromosome problem) from the nuchal fold test three years ago. She and her partner sweated out the wait for the ultrasound, and they ended up with a perfectly healthy child.
I wish you the best,
D.

P.H.

answers from Boston on

You will have the baby you are mean tot have, you will love this baby and do everything in your paower to give your baby the best world possible. You do need to wait for tests results and then work form there. Worrying more than you cna without information really is a waste of energy.

Once you find out what the issues are you will research and seek out answers. you will find the answers you can once you have all of the inforamtion out there to help guide you. My son was a preemie, we foudn the resources we needed, we got iealry intervention in, we spent 5 years helping him in every way possibel for his issues of delays and low tone. My son is now on track, at grade level and anyway a wonderfulchild. H ei s almost 7.
Good Luck you are up to this.

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