title: Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report.
abstract: We report on a 32-year-old G3P2 woman at increased risk of argininosuccinic aciduria in her offspring. In her first infant, the disease was diagnosed at age 3 months. In the second pregnancy, the disorder was excluded following incorporation of radio-labeled 14C-citrulline in intact chorionic villi obtained through transcervical chorionic villus sampling at 10 weeks gestation. Twins were diagnosed in the third pregnancy. Separate transabdominal chorionic villus sampling of both fetuses was carried out at 10 weeks gestation. Chromosome analysis demonstrated a normal male and female karyotype. Incorporation of radio-labeled 14C-citrulline in intact villi was deficient in both villus samples, establishing the diagnosis of argininosuccinic aciduria in both fetuses. The present results confirm the reliability of direct analysis of villi for the diagnosis of argininosuccinic aciduria.
authors.affiliation: Department of Obstetrics and Gynecology, Erasmus University Rotterdam, The Netherlands.
authors.forename: L
authors.initials: L
authors.lastname: Pijpers
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: A
authors.initials: A
authors.lastname: Reuss
authors.forename: M G
authors.initials: MG
authors.lastname: Jahoda
authors.forename: F J
authors.initials: FJ
authors.lastname: Los
authors.forename: E S
authors.initials: ES
authors.lastname: Sachs
authors.forename: J W
authors.initials: JW
authors.lastname: Wladimiroff
mesh_terms: D000328:Adult; D001120:Arginine / Q000031:analogs & derivatives*; D001125:Argininosuccinic Acid / Q000652:urine*; D015193:Chorionic Villi Sampling; D004200:Diseases in Twins / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011272:Pregnancy, Multiple; D011296:Prenatal Diagnosis; D012307:Risk Factors
chemical_list: D001125:Argininosuccinic Acid; D001120:Arginine