Patient's question:
My child has an exon deletion in the 8-30 region of the dystrophin gene as detected by genetic testing. The mother's genetic test did not reveal any deletion. The child was diagnosed with progressive muscular dystrophy at the age of four.Doctor's answer:
Now that the 4-year-old child has been identified as an index case with an abnormal gene, it is recommended that the mother undergo prenatal diagnosis (amniocentesis) during weeks 18-22 of pregnancy: genetic testing and fetal chromosome examination.If the mother's chromosomes need to be tested, it is advised to have a pre-pregnancy check-up, as chromosome culture requires a long time.