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Dr. Marjorie Greenfield
Specializing in pregnancy and birth.
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Confusing Amniocentesis Results
QUESTION
Dear Dr. Greenfield,
I am 29 years old and in my 22nd week of pregnancy. After my amniocentesis, the baby was diagnosed with Mosaiiac Trisomy 13. The doctors do not know whether the baby is affected or if there are just bad cells in the amniotic fluid around the baby. They have suggested termination, but haven't given me enough information to make that decision. Do you have any information on this disorder?

P.S This is my fourth child, and they are all fine!

— Dixie Chic in Baltimore, MD

ANSWER
December 19, 2001
Dear Dixie Chic,
I am so sorry that you are in such an awful position. Unfortunately, the severity of this condition in your particular situation may not be predictable from the information at hand. Sometimes amnio results just aren't clear-cut. A genetics counselor would be best equipped to answer your questions, but he or she will not make the decision for you.

You will end up deciding what to do based on your own beliefs and values, since no one seems to be able to tell you exactly what this finding means. It is incredibly frustrating when this happens, but not that rare. Collect information from your sources, and then think through all the possibilities with your family. Sometimes it helps to think of the worst-case scenario for each decision path, and see what you can live with. If you need to, meet again with your husband and the genetics counselor. This is a case where there isn't a right answer, and you may just have to pick a path. I am sorry that I don't have an answer for you. Take care.

— by Marjorie Greenfield, M.D.

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