Prenatal fetoscopic diagnosis of the Apert syndrome.
We report the prenatal diagnosis of the Apert syndrome by fetoscopy. The patient was a 22-year-old college student with this autosomal dominant form of acrocephalosyndactyly whose first pregnancy had resulted in a stillborn, affected infant. Fetoscopy at 17 weeks showed that she was carrying another affected fetus, and the pregnancy was terminated.
D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005332:Fetoscopy; D005333:Fetus / Q000473:pathology; D005799:Genes, Dominant; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics; D011296:Prenatal Diagnosis