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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Is A Positive Result For Microdeletion Test A Concerning Matter?

Hello doctor, my nipt with micro deletion test at 13.4 weeks came put negative for any anamologies, but micro deletion for chromosome 22 is positive. It s a twin pregnancy IVF FET cycle with 5 day blast cyst transfer. Doctor told me that the twin development maybe 1 week apart so the test result sometimes maybe positive, Does this happen, can I be peaceful about this pregnancy?
Tue, 11 Sep 2018
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General & Family Physician,  's  Response
Hi,

Microdeletion test is a screening test to see possibility of genetic malformations in us. A positive test just suggests such possibility. A positive test does not confirm such condition. There are as many as 100 microdeletion possible in growing us. Out of which few are confirmatory of the abnormality, rest are inert.

So one need not be tense with positive test result. If the reading is high enough, your doctor would refer you to genetic intensivist for further evaluatory tests to confirm certain genetic abnormality.

Hope I have answered your query. Let me know if I can assist you further.
Regards,
Dr. Vasudha Jayant Athavale, General & Family Physician
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Is A Positive Result For Microdeletion Test A Concerning Matter?

Hi, Microdeletion test is a screening test to see possibility of genetic malformations in us. A positive test just suggests such possibility. A positive test does not confirm such condition. There are as many as 100 microdeletion possible in growing us. Out of which few are confirmatory of the abnormality, rest are inert. So one need not be tense with positive test result. If the reading is high enough, your doctor would refer you to genetic intensivist for further evaluatory tests to confirm certain genetic abnormality. Hope I have answered your query. Let me know if I can assist you further. Regards, Dr. Vasudha Jayant Athavale, General & Family Physician