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Is A Positive Result For Down's Syndrome During The First Trimester Serious?

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Posted on Thu, 22 Sep 2016
Question: Hi, I'm 35 years old and 10 weeks pregnant. I just got an email from my Gynaecologist that my Down Syndrome tests came back positive. She didn't explain to me anything. Should I be worried does this mean my baby is Down syndrome?
doctor
Answered by Dr. Dalia Muraleedharan (43 minutes later)
Brief Answer:
DON'T WORRY

Detailed Answer:
Hi,
Thanks for writing..
I can understand your concern..

First trimester screening coming out positive for down's syndrome is not a confirmatory test.. It only indicates a possibility of having down's syndrome.. The confirmatory test is chorionic villus sampling at 11-12 weeks or amniocentesis after 15 weeks in which cells of the fetus is taken from uterus via a needle and sent for genetic screening.. Another sophisticated blood test has evolved cell free fetal DNA which is 99% definite test for down's syndrome.. It costs nearly 1000 Australian dollars..

If this test is unavailable in your location you can proceed with chorionic villus sampling or amniocentesis.. Another option is another blood screening called triple screening test or quadruple screening test after discussing with your gynaecologist..

Hope I have answered your query.. feel free to ask any queries..
Good day..

Above answer was peer-reviewed by : Dr. Arnab Banerjee
doctor
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Follow up: Dr. Dalia Muraleedharan (46 hours later)
Evening,

I got the results that I'm 1:260 just my age it was 1:180. Am I suppose to be too worried and what's the cut off of it been too high.
doctor
Answered by Dr. Dalia Muraleedharan (10 hours later)
Brief Answer:
There is a moderate risk for Down's syndrome..

Detailed Answer:
Hi,
Thanks for writing..

There is a moderate risk for down's syndrome.. Can you upload the report along with the graph to let you know the exact cut off for your age..

Looking forward for your reply.. Thanks..
Above answer was peer-reviewed by : Dr. Priyanka G Raj
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Answered by
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Dr. Dalia Muraleedharan

OBGYN

Practicing since :2003

Answered : 1044 Questions

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Is A Positive Result For Down's Syndrome During The First Trimester Serious?

Brief Answer: DON'T WORRY Detailed Answer: Hi, Thanks for writing.. I can understand your concern.. First trimester screening coming out positive for down's syndrome is not a confirmatory test.. It only indicates a possibility of having down's syndrome.. The confirmatory test is chorionic villus sampling at 11-12 weeks or amniocentesis after 15 weeks in which cells of the fetus is taken from uterus via a needle and sent for genetic screening.. Another sophisticated blood test has evolved cell free fetal DNA which is 99% definite test for down's syndrome.. It costs nearly 1000 Australian dollars.. If this test is unavailable in your location you can proceed with chorionic villus sampling or amniocentesis.. Another option is another blood screening called triple screening test or quadruple screening test after discussing with your gynaecologist.. Hope I have answered your query.. feel free to ask any queries.. Good day..