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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Pregnant Diagnosed With Polyhydramnios. Done Genetic Testing, Found Acrogenic Foci. Any Down Syndrome To The Baby?

i was diagnosed with polyhydramnios at 32 weeks. highest ive measured is 34-36cm. i was sent for genetic testing and one soft marker was found....echogenic foci. all of my early screening tests were negative and put me at 1:1100 for DS but with the soft marker im now at 1:550. they also mentioned that it appears she has a small chin in the ultrasound. should i be prepared for my daughter to have down syndrome or should i not worry since no other markers or abnormalities were found?
Mon, 11 Mar 2013
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OBGYN 's  Response
Hi Lindsey,
Welcome to healthcare magic.
Your estimated risk for having a Down Syndrome baby is above average but presence of polyhydramnios, echogenic foci or a small chin is not an indicator of having a Down Syndrome baby for sure.
I suggest you to have two tests;
Amniocentesis for karyotying of your baby ( this gives you a very accurate result about the genetic make up of your baby) & OGTT ( oral glucose tolerance test to exclude diabetes which is a common cause of polyhydramnios).
Your pregnancy is far advanced & has reached viability state now. You have a choice of not to do any Karyotyping as at this stage it can only give you a more accurate answer about the genetic make up of your baby & you may be more prepared about what to expect ( at earlier stages of pregnancy parents may choose to terminate their pregnancy if tests are abnormal).
Hope this is a helpful answer for you.
Best of luck.
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Pregnant Diagnosed With Polyhydramnios. Done Genetic Testing, Found Acrogenic Foci. Any Down Syndrome To The Baby?

Hi Lindsey, Welcome to healthcare magic. Your estimated risk for having a Down Syndrome baby is above average but presence of polyhydramnios, echogenic foci or a small chin is not an indicator of having a Down Syndrome baby for sure. I suggest you to have two tests; Amniocentesis for karyotying of your baby ( this gives you a very accurate result about the genetic make up of your baby) & OGTT ( oral glucose tolerance test to exclude diabetes which is a common cause of polyhydramnios). Your pregnancy is far advanced & has reached viability state now. You have a choice of not to do any Karyotyping as at this stage it can only give you a more accurate answer about the genetic make up of your baby & you may be more prepared about what to expect ( at earlier stages of pregnancy parents may choose to terminate their pregnancy if tests are abnormal). Hope this is a helpful answer for you. Best of luck.