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Child born with down syndrome. Blood test came negative. Chances of false positive test during ultrasound?

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ENT Specialist
Practicing since : 1984
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down syndromemy daughtrer was recently born a month ago and all was well at hospital. early on in pregnancy they saw a spot in back of head in ultrasound but it went away and dr rulled her to be a nomal pregnancy. all blood work showed negative to down syndrome. she was born and all drs said all was well. she is healthy and looks normal bit im worried about a false positive or a missed diagnoses of down syndrome. is that possible?
Posted Tue, 30 Apr 2013 in Child Health
Answered by Dr. A.K. Srivastava 1 hour later

Thanks for writing to H.C.M.for your query.

I have gone through your query and the observations of your doctors. If after examining your doctors ruled out down syndrome that means they are correct. as far as ultrasonic finding are concerned in intrauterine life of foetus falacies are possible due to artifacts on radiological picture.

But if still any suspition than you should waite and watch.

Above answer was peer-reviewed by
Follow-up: Child born with down syndrome. Blood test came negative. Chances of false positive test during ultrasound? 6 hours later
could it be missed at birth?
Answered by Dr. A.K. Srivastava 6 hours later

Thanks for reconsulting H.C.M. for carification of doubts.


At birth usualy paedia doctor checks the vitals of new born and try to maintain the vitals, than after examination is done to rule out congenital anomalies which are evident clearly. As for as down's syndrome is concerned here child has a flat face with wide apart slite like eyes and small head and this can't be judge at the time of birth untill there is family history of congenital anomaly, only one feature is SINGLE crease in palm gives suspition, and in suspected cases early diagnosis is made by GENETIC STUDY of newborn.

Above answer was peer-reviewed by
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