title: Diagnosis and prediction of parental origin of triploidies by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 11-14 weeks of gestation.
abstract: The study objective was to determine the parental origin of triploidy in relation to findings from early risk assessment in a combined screening program between 2004 and the end of 2006. Triploidy was diagnosed in six chorion villus samples and two samples from missed abortions. After informed consent, quantitative fluorescence polymerase chain reaction analysis was performed on the five cases where we received blood from both parents and tissue from fetuses. In four cases the origin of the triploidy was paternal and in one maternal, in accordance with previous findings in type I and type II triploidies. Finding triploidy is possible by risk assessment (ultrasound and double test), and thereby women may have the opportunity for early termination of pregnancy.
authors: Department of Obstetrics and Gynecology, Roskilde Sygehus, Roskilde, Denmark. sidsel_kim@email.dk
authors: Sidsel S
authors: SS
authors: Barken
authors: Lillian
authors: L
authors: Skibsted
authors: Lisa N
authors: LN
authors: Jensen
authors: Lene
authors: L
authors: Sperling
authors: Helle
authors: H
authors: Zingenberg
authors: Karen
authors: K
authors: Brøndum-Nielsen
mesh_terms: D000328:Adult; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D005333:Fetus; D005838:Genotype; D006801:Humans; D008297:Male; D048208:Nuchal Translucency Measurement; D010290:Parents; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011266:Pregnancy-Associated Plasma Protein-A / Q000378:metabolism*; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics
chemical_list: D018997:Chorionic Gonadotropin, beta Subunit, Human; D004247:DNA; D011266:Pregnancy-Associated Plasma Protein-A