First-trimester prenatal diagnosis of Sanfilippo C disease.
At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl-CoA: alpha-glucosaminide N-acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow-up study on fetal fibroblasts confirmed the diagnosis.
D000328:Adult; D001706:Biopsy; D002824:Chorionic Villi / Q000473:pathology; D005260:Female; D006801:Humans; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012307:Risk Factors