May 2008

April 29, 2008 at 5:29 pm · Filed under AUSTIN AREA OB/GYN BLOG

Question: There are a lot of tests early in pregancy, what is the nuchal translucency test my doctor was talking about? 

Answer:  I know we give out a lot of information in a short amount of time during our visits, so it is easy to miss this one.  The nuchal translucency ultrasound or NT (for short) is an measurement of the skin fold behind the babys neck between 11 and 13 weeks.  Newer Studies have shown that this measurment is a predictor for Down’s Syndrome (Trisomy 21) and Trisomy 18.  The measurement is combined with blood tests results to get a very early risk screen.  This early screening can capture approximately 85 to 90 percent of cases.  Early screening allows your physician to guide you on whether you need a more invasive test such as chorionic villus sampling or amniocentesis — Dr. Edgerton

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10 Comments»

  Janie wrote @ May 4, 2008 at 12:00 am

I never knew that this test could help predict DS. Thanks for the posting in our newsletter.

Janie
Houston, TX

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  sharon stetz wrote @ May 8, 2008 at 11:38 am

I had a nt which was great but my blood work came back positive. I also had a sonogram at 18 week that was perfect no markers at all for downs. I wanted an amniocentesis but the office could not fit me in the two week period. (befor20 weeks) I would like to know how often is the blood work right? All the doctor keeps telling me is that I’m at higher risk because I’m 39.

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  Fatimah wrote @ May 8, 2008 at 1:47 pm

Thank you alot for this information.
I study Medical Laboratory and i tooke this syndrome, but ididn’t know about this test.
Thank yooou.^_^

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  dredgerton wrote @ May 8, 2008 at 3:17 pm

The blood work and NT is a risk assessment. Depending on what variation of the available test you had – Detection of Downs Syndrome can be as high as 85 to 90%. Your age certainly plays a part. Amniocentisis is the only way to know for sure if your baby has a chromosomal disorder. You would need to weigh the benefit of knowing that information with the risk of the test.

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  Lisa wrote @ May 8, 2008 at 6:09 pm

I had this test for my first and will have it again, but in a different order. London’s NT measurement was high and because I was 34, the nurse told me that there was a 90-something percent chance that my son would have Downs Syndrome even if my blood work came back negative. The CVS showed that he was fine. I had no idea that there were false positives and was devastated.

Because his NT measurement was high, we followed-up with a cardiologist. Again, he was fine.

This time around we’re getting the results from the bloodwork done early in hopes that we avoid another scare.

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  Nicole wrote @ May 10, 2008 at 5:47 pm

im 23 and I chose not to take any of the test to determine if my baby would have downs, I know that I would care for the baby no matter what so I choose not to put myself in th agony of waiting to actually see if it had downs or not because there are so many false positives in the testing and an amniocentisis could cause you to miscarry so why take the risk of loosing your child….God gives you each child for a reason, so i think that if God gives me a child with a disorder than he gave the child to me for a purpose and God loves all people no matter what!

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  dredgerton wrote @ May 11, 2008 at 4:29 pm

Your opinion is very valid but remember the test isnt just for Down’s Syndrome. Trisomy 18 is also detected which is a very severe condition. Many patients want to know and be prepared for what may happen. There is no right or wrong with the option patients ultimately choose. Congrats on your pregnancy!

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  Carol wrote @ January 26, 2009 at 3:04 am

Expectant parents:

If you ever learn that you are expecting a baby with Down Syndrome, you should visit with a local Down Syndrome parent support group, such as the Down Syndrome Association of Central Texas. There you could meet parents of children and adults with Down Syndrome and learn a wealth of valuable information. The vast majority of parents are deeply happy to have their children and would not trade for anything. My son with D.S. is 13 now and he has enriched our lives immeasurably. He has a fabulous personality. There are many supports available: schools provide for his special education needs, he is eligible for Medicaid, special camps and a variety of other programs, he is popular at school.

You too, will fall in love with your Downs baby, and not be able to imagine life without him/her.

If you feel you cannot raise the child, it is important to know that babies with Down Syndrome are sought after by families open to adopting children with special needs.

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  Carol wrote @ January 26, 2009 at 3:15 am

Expectant parents:

If you ever learn that you are expecting a baby with Down Syndrome, you should visit with a local Down Syndrome parent support group, such as the Down Syndrome Association of Central Texas. There you could meet parents of children and adults with Down Syndrome and learn a wealth of valuable information. The vast majority of parents are deeply happy to have their children and would not trade for anything. My son with D.S. is 13 now and he has enriched our lives immeasurably. He has a fabulous personality. There are many supports available: schools provide for his special education needs, he is eligible for Medicaid, special camps and a variety of other programs, he is popular at school.

You too, will fall in love with your Downs baby, and not be able to imagine life without him/her.

If you feel you cannot raise the child, it is important to know that babies with Down Syndrome are sought after by families open to adopting children with special needs.

From a fellow parent, best wishes.

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  Carol wrote @ February 14, 2009 at 2:26 pm

Here is a link to an excellent reference if you are expecting a baby with Down Syndrome.

http://www.ndsccenter.org/resources/documents/Light-Tunnel-all-LR.pdf

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