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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Precautions Should Be Taken In 2nd Pregnancy When The Child From 1st One Died Of Chronic Granulomatous Disease?

My cousin sister had a son 2 yrs old who was diagnosed to have chronic granulomatous disease expired 2 months before .., now she is 4 months pregnant what are precautions or investigation to be undertaken as we have been informed the present pregnancy might have baby who can have the same disease !!
Thu, 23 Jan 2014
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OBGYN,  's  Response
hI. sINCE SHE is already 4 months pregnant, you have missed 1st trimester tests like, NT Scan, blood tests. But now she should have level 2 scan to see all congenital anomalies alongwith quadruple marker test,at the earliest .If any thing wrong, she can have amniocentesis done from a genetic centre.Also both partners can get their karyotyping done and consult.
Thanks.
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What Precautions Should Be Taken In 2nd Pregnancy When The Child From 1st One Died Of Chronic Granulomatous Disease?

hI. sINCE SHE is already 4 months pregnant, you have missed 1st trimester tests like, NT Scan, blood tests. But now she should have level 2 scan to see all congenital anomalies alongwith quadruple marker test,at the earliest .If any thing wrong, she can have amniocentesis done from a genetic centre.Also both partners can get their karyotyping done and consult. Thanks.