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positive test for Downs syndrome?

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June 17th, 2011
Hello my name is Tau. I am currently 30wks pregnant. I had done screening, ultrasound for Down Syndrome and the chances/risk came back pretty high. First it said 1 out of 10. And them another result came back at a later time saying 1 out of 3 chances. So I went ahead and had the Amniocentesis done, which wasnt even painful. And results returned back positive for DS. Could these results come out wrong? I dont know if this has happened to another mother where all tests and amnio came back positive but gave birth to a healthy child. Anyone knows?


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replied June 17th, 2011
Third Trimester of Pregnancy Answer A24174
Hi,
Welcome to ehealthforum,
If the ultrasound scans and the amniocentesis reports have been consistent in showing results positive for Down syndrome, then chances cannot be ruled out completely (as false positive results are about 2-5%, and accuracy of the tests are about 95%). The baby born will be affected (if results are positive), although the extent might vary in few cases. Consider discussing your results with Perinatologist for further explanation. You can consider going ahead with further tests to confirm the results like : maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), human chorionic gonadotropin (hCG, a pregnancy hormone), and inhibin-Alpha (INHA), Ultrasound scan done to measure Nuchal Translucency in addition to the freeBeta hCG and PAPPA (pregnancy-associated plasma protein A) measurement. Be regular follow-up with your treating gynecologist/obstetrician.
Take care.



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