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Dr. Andrew Rynne
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Dr. Andrew Rynne

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Can Any Symptom Of Trisomy 14 Be Seen With The Ultra Sound At 17weeks Pregnancy?

hi im 30 years old, my cvs results shows trisomy 14.i did an ultrasound and tthe doctor said the baby was normale i also did an amniocentesi today. wish to know if if any symptom of trisomy 14 can be seen with the ultra sound at 17weeks. im 17 weeks 3days. thanks
Fri, 10 Apr 2015
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OBGYN, Maternal and Fetal Medicine 's  Response
Hi, I have gone through your question and understand your concerns. Trisomy 14 is a rare condition in which there are 3 chromosome 14 instead of 2 in each cell of the body. Such babies Mau have no major congenital anomalies which is visible in ultrasound, but they have problems in feeding, learning and socializing later after birth.
However,chorionic villus sampling does not gives definitive diagnosis of trisomy 14 as some cells may be abnormal in placenta( confined placental mosaicism) while the fetus is normal.
Even amniocentesis does not gives confirmatory diagnosis.
I would suggest you to consult a fetal medicine specialist and get a chordocentesis at around20 weeks gestation, as it directly tests the blood from the fetus and gives definitive diagnosis. Further management has to be done accordingly.
Hope you found the answer helpful. Please do get back for further queries.
Wishing you good health.
Regards,
Dr Deepti Verma
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Can Any Symptom Of Trisomy 14 Be Seen With The Ultra Sound At 17weeks Pregnancy?

Hi, I have gone through your question and understand your concerns. Trisomy 14 is a rare condition in which there are 3 chromosome 14 instead of 2 in each cell of the body. Such babies Mau have no major congenital anomalies which is visible in ultrasound, but they have problems in feeding, learning and socializing later after birth. However,chorionic villus sampling does not gives definitive diagnosis of trisomy 14 as some cells may be abnormal in placenta( confined placental mosaicism) while the fetus is normal. Even amniocentesis does not gives confirmatory diagnosis. I would suggest you to consult a fetal medicine specialist and get a chordocentesis at around20 weeks gestation, as it directly tests the blood from the fetus and gives definitive diagnosis. Further management has to be done accordingly. Hope you found the answer helpful. Please do get back for further queries. Wishing you good health. Regards, Dr Deepti Verma