DMD prenatal diagnostic test

Patient's question:

In 2007, the first child was a boy, now 7 years old. At the age of 6, he was diagnosed with DMD. The examination results from the Golden Testing Institution in Guangzhou and the First People's Hospital of Yunnan Province were consistent: the patient has a deletion in exons 46-52. Mother's examination: no deletion or duplication of genes was observed. Currently pregnant with the second child, the prenatal diagnosis at the Department of Medical Genetics of the First People's Hospital of Yunnan Province is: male fetus, no deletion in 79 exons; linkage analysis: the male fetus inherits the same X gene from the mother as the proband.

Doctor's answer:

Based on all the information you provided, it is more likely that the first child has a new-onset DMD. The fetus's DMD gene has no deletion, and generally, the possibility of the fetus being a patient is still very low. Although this result cannot completely rule out the possibility that the fetus is not a DMD patient, it should be worth the risk to keep the fetus.

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