title: Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases.
abstract: We report the results of 23 prenatal diagnoses performed at the 11th or 12th week of gestation by the simultaneous analysis of chorionic villi (for direct or indirect enzymatic analysis) and cell-free amniotic fluid (for search of accumulated catabolites). For six cases of citrullinaemia, four cases of argininosuccinic aciduria, seven cases of propionic acidaemia, and six cases of methylmalonic acidaemia, three discrepancies were observed between the two methods used. The amniotic fluid analysis for accumulated catabolites seems to be a safe method and should always be used in conjunction with the enzymatic assays performed for the prenatal diagnosis of these diseases.
authors.affiliation: Laboratoire de Biochimie Génétique, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: P P
authors.initials: PP
authors.lastname: Kamoun
authors.forename: B
authors.initials: B
authors.lastname: Chadefaux
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry; D001125:Argininosuccinic Acid / Q000032:analysis; D015193:Chorionic Villi Sampling; D002956:Citrulline / Q000032:analysis; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008764:Methylmalonic Acid / Q000032:analysis; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D011422:Propionates / Q000032:analysis
chemical_list: D011422:Propionates; D001125:Argininosuccinic Acid; D002956:Citrulline; D008764:Methylmalonic Acid; C029658:propionic acid