title: Prenatal diagnosis of rhizomelic chondrodysplasia punctata.
abstract: Plasmalogen biosynthesis and phytanic acid oxidation activity were measured in cultured chorionic villus samples or amniocytes from four pregnancies at risk for the rhizomelic form of chondrodysplasia punctata (RCDP). Normal results were obtained in three of the samples and post-natal examination or fetal ultrasound studies confirmed that the fetuses were unaffected. Chorionic villus culture in one case demonstrated defective plasmalogen biosynthesis and lack of phytanic acid oxidation. Pregnancy was interrupted at 10 weeks. Immunoblot studies of post-mortem fetal tissues showed that peroxisomal 3-oxoacyl-coenzyme A thiolase was present in the unprocessed form, a finding we had previously demonstrated in RCDP. These results establish that RCDP can be identified prenatally.
authors.affiliation: Kennedy Institute for Handicapped Children, Johns Hopkins University.
authors.forename: S
authors.initials: S
authors.lastname: Hoefler
authors.forename: G
authors.initials: G
authors.lastname: Hoefler
authors.forename: A B
authors.initials: AB
authors.lastname: Moser
authors.forename: P A
authors.initials: PA
authors.lastname: Watkins
authors.forename: W W
authors.initials: WW
authors.lastname: Chen
authors.forename: H W
authors.initials: HW
authors.lastname: Moser
mesh_terms: D000649:Amniocentesis; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000378:metabolism; D002824:Chorionic Villi / Q000032:analysis; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D010084:Oxidation-Reduction; D010831:Phytanic Acid / Q000378:metabolism; D010955:Plasmalogens / Q000096:biosynthesis; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005227:Fatty Acids; D010955:Plasmalogens; D010831:Phytanic Acid