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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Is The Chance Of DS In My Baby?

I had a blood test done at 9w6d and the results came back high risk 1/100 for trisomy 21, however it did not say positive my doctor told me that my baby has DS. I know my age is a factor at 39, however all of my and my husband s genetic tests prior to fertility came back normal and there is no DS on either side of our family. Is this truly a positive diagnosis?
Thu, 4 Sep 2014
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OB and GYN Specialist,  's  Response
well , diagnosis based on triple or quadruple screen is not certain but it gives a risk rating, as in this case it is high risk of 1:100. the diagnosis can be confirmed by performing amniocentesis at 11 weeks to 13 weeks period of gestation and subjecting it to FISH analysis, which can give an confirmative idea of the fetal genotype and tell you certainly if there are three chromosome no.21 or as we call trisomy 21. discuss the option with you care provider before contemplating termination of pregnancy. for further consult you may contact me at:
http://www.healthcaremagic.com/doctors/dr-sameer-kumar/68814
regards
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What Is The Chance Of DS In My Baby?

well , diagnosis based on triple or quadruple screen is not certain but it gives a risk rating, as in this case it is high risk of 1:100. the diagnosis can be confirmed by performing amniocentesis at 11 weeks to 13 weeks period of gestation and subjecting it to FISH analysis, which can give an confirmative idea of the fetal genotype and tell you certainly if there are three chromosome no.21 or as we call trisomy 21. discuss the option with you care provider before contemplating termination of pregnancy. for further consult you may contact me at: http://www.healthcaremagic.com/doctors/dr-sameer-kumar/68814 regards