Nuchal Translucency Test: Is It Right For You?

Question
Doctor,

Your responses are very very helpful. Thanks so much. I do have 1 follow-up.
"I am 30 years old and have no family history of chromosomal abnormalities. I am debating whether to do a nuchal translucency or not. My insurance covers it - so that is not the issue. The only thing is - I am not sure whether I want to do Nuchal Translucency or not. Do you normally recommend this test for patients like me OR would you suggest not do it at all?"

Thanks a lot. You are doing a great service. Really appreciate it.

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Followup To
Question -
Thanks so much - Doctor.
What are the chances of getting a "FALSE POSITIVE" when we do a nuchal tranlucency? ie. even if there is no down syndrome - the test says that there is an increased risk of down syndrome. Does that ever happen?


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Followup To
Question -
Hello Doctor,

I wanted to know if there is ANY risk of doing a "Nuchal Transclucency" Scan on a baby at about 13 weeks or pregnancy?

Is it completely safe - or can there be some issues?

I donot have any high risk of down syndrome or any other chromosomal abnormality; and I am 30 years old. So there is no strong reason to do NT. But my insurance is going to pay for it. So I am wondering if there is any reason to not do it.

Please let me know
Answer -
There is absolutely no risk to having a sonogram performed at 13 weeks gestation to see if there is any nucahl transluscency. Remember, though, that this is merely a "soft sign" of Down's syndrome and is, by no means, definitive. If, however, there are signs of nuchal transluscency, an amniocentesis is the only way to know, for sure, if there are any chromosomal abnormalities. An amniocentesis hasa risk of 1:400 chance of spontaneous abortion. If would also recommend taking an alphafetoprotein test (at 16 weeks gestation), which gives an indication of neural tube defect or Down's syndrome risk. It is a simple blood test and has no risk.
Answer -
As I said before, "nuchal transluscency" is a soft sign of Down's syndrome and, thus, has many, many false positives. It has to be taken with a grain of salt and is definitely not diagnostic. HOwever, if you have any doubts, get an amniocentesis performed and you will know 100% of the time.

Answer
All information is helpful. It cannot hurt to have the nuchal transluscency test performed. However, depending on the results, you can decide whether you wish to pursue investigation or merely take it with "a grain of salt" and trust statistical analysis (the fact that you are very low risk for Down's). Just remember that it is a "soft" sign and is not a definitive test.