[Prenatal diagnosis of Duchenne muscular dystrophy by fetoscopic muscle biopsy. Report of a case].
A needle muscle biopsy through a fetoscope for the antenatal diagnosis of Duchenne muscular dystrophy (DMD) was reported the mother was a carrier of 30 years old with a family history of Duchenne muscular dystrophy. Her brother died of DMD and her son had suffering from DMD. At 17 weeks of her second gestation, an amniotic puncture was performed. The cellular chromosome was found to be a male fetus (46,xy). At 20 weeks of her gestation, a needle muscle biopsy of the male fetus was performed under fetoscopy and turned out to be Duchenne muscular dystrophy. At 23 weeks, a male fetus was born with induced labor. The pre and postnatal muscles were examined under the light and electron--microscopes. The large hyaline round fibres were positive for calcium. There was evidence of a break down of the basement membranes, appearance of A and I bands and fragmentation of Z bands. Myofibrils were replaced by thin filaments. The diagnosis of Duchenne muscular dystrophy was established on the basic of these findings. This was considered the first case of antenatal fetal Duchenne muscular dystrophy diagnosed with the aid of fetoscope and needle muscle biopsy.
Guo
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D000028:Abortion, Induced; D001707:Biopsy, Needle; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005332:Fetoscopy; D006801:Humans; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis