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Old 04-14-2013
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Genetics Question about genetic testing in DMD carriers

A 37 y/o female has a son with DMD She has had blood tests to see if she is a carrier and she is not. She is now pregnant with another son and has also had genetic testing done via cvs on the fetus for DMD which has come back negative. There is no family history, she has 5 healthy brother and 4 healthy uncles on her mothers side. She also as another son who does not have the disease. Can this child still be born with DMD if the specific deletion or mutation of the existing child with DMD is not know to test on the cvs and the mother manifests the carrier gene in her ovaries and therefore her carrier status did not come up in the blood test?
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