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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Tests Are Done To Check Whether Fetus Has Downs Syndrome Or Not?

My daughter-in-law is in her 12th week of pregnancy, her doctor saw a thickness in the neck on her first sonogram and immediately referred her to another doctor. She had the CVS done on Tuesday and received a preliminary report that the fetus is not positive for Downs Syndrome, Trisosby 13 & 18 but has to wait for the final results are in to rule out anything else. What anything else are they looking for
Tue, 28 Jan 2014
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OBGYN,  's  Response
Hello
Thanks for writing to us with your health concern.
What you meant in the first sonogram is called NT - nuchal translucency.
It is increased in babies who have Down's syndrome.
That is just suspicious, but not confirmatory for Down's .
There are various other soft markers present on a sonogram which point towards this diagnosis.
After the suspicion is raised, a test called Double marker maybe done.
This is a blood test which again assesses the ' risk ' of Down's syndrome.
After these initial screening tests, the confirmation is done via a test called CVS or amniocentesis.
In this, fetal tissue is aspirated out, and the cells are directly tested for presence of the chromosomal anomalies that you mentioned .
These 3 are Down's , trisomy 13 and trisomy 18.
IF this test is negative, then these 3 can be conclusively ruled out.
All the best.
Take care.
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What Tests Are Done To Check Whether Fetus Has Downs Syndrome Or Not?

Hello Thanks for writing to us with your health concern. What you meant in the first sonogram is called NT - nuchal translucency. It is increased in babies who have Down s syndrome. That is just suspicious, but not confirmatory for Down s . There are various other soft markers present on a sonogram which point towards this diagnosis. After the suspicion is raised, a test called Double marker maybe done. This is a blood test which again assesses the risk of Down s syndrome. After these initial screening tests, the confirmation is done via a test called CVS or amniocentesis. In this, fetal tissue is aspirated out, and the cells are directly tested for presence of the chromosomal anomalies that you mentioned . These 3 are Down s , trisomy 13 and trisomy 18. IF this test is negative, then these 3 can be conclusively ruled out. All the best. Take care.