title: First prenatal diagnosis of the carnitine transporter defect.
abstract: We report the first attempt at prenatal diagnosis of the carnitine transporter defect in a fetus at high risk of having the disorder. Analysis of cultured CVS after prolonged culture predicted that the fetus was not affected but might be heterozygous for the carnitine transporter defect, but chromosome 15 satellite DNA markers showed no paternal contribution, suggesting that the CVS cells assayed were of predominantly maternal origin. Subsequent assay of cultured amniocytes predicted that the fetus would be affected, and this was confirmed in the newborn period. We conclude that prenatal diagnosis of the carnitine transporter defect is possible, but where results depend on extended culture of CVS, molecular studies should be performed to confirm genetic contributions from both parents.
authors.affiliation: Department of Paediatrics and Child Health, University of Sydney, N.S.W., Australia.
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: S H
authors.initials: SH
authors.lastname: Teo
authors.forename: J
authors.initials: J
authors.lastname: Hammond
authors.forename: K G
authors.initials: KG
authors.lastname: Sim
authors.forename: B Y
authors.initials: BY
authors.lastname: Hsu
authors.forename: C A
authors.initials: CA
authors.lastname: Stanley
authors.forename: B
authors.initials: B
authors.lastname: Watson
authors.forename: K C
authors.initials: KC
authors.lastname: Lau
authors.forename: B
authors.initials: B
authors.lastname: Wilcken
mesh_terms: D002331:Carnitine / Q000097:blood; D002333:Carnitine Acyltransferases / Q000172:deficiency* / Q000235:genetics; D015193:Chorionic Villi Sampling; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D016133:Polymerase Chain Reaction; D011247:Pregnancy
chemical_list: D002333:Carnitine Acyltransferases; D002331:Carnitine