title: First-trimester non-invasive prenatal diagnosis of triploidy.
abstract: We report a case of fetal triploidy in which fetal nucleated red blood cells were isolated from the maternal peripheral circulation at 12 weeks' gestation. FISH analysis with X and Y specific probes revealed three hybridization signals for the X chromosomes in 14 cells. The karyotype as established after CVS was shown to be 69,XXX. Two other non-invasive first-trimester screening methods were also evaluated. The serum markers pregnancy-associated plasma protein A (PAPP-A) and the free beta-chain of chorionic gonadotrophin (free beta-hCG) were both shown to be decreased in the same blood sample. An enlarged nuchal translucency (5 mm > or =95th centile) was seen at 13+2 weeks of gestation.
authors.affiliation: Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands. I.M.deGraaf@AMC.UvA.NL
authors.forename: I M
authors.initials: IM
authors.lastname: de Graaf
authors.forename: S M
authors.initials: SM
authors.lastname: van Bezouw
authors.forename: M E
authors.initials: ME
authors.lastname: Jakobs
authors.forename: N J
authors.initials: NJ
authors.lastname: Leschot
authors.forename: H A
authors.initials: HA
authors.lastname: Zondervan
authors.forename: C M
authors.initials: CM
authors.lastname: Bilardo
authors.forename: J M
authors.initials: JM
authors.lastname: Hoovers
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood*; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011123:Polyploidy; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
chemical_list: D015415:Biomarkers