First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B.
Two pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N-acetyl-alpha-D-glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy.
D000118:Acetylglucosaminidase / Q000032:analysis / Q000172:deficiency; D002824:Chorionic Villi / Q000201:enzymology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
D000118:Acetylglucosaminidase