title: Detection of low-grade mosaicism in fetal cells isolated from maternal blood.
abstract: Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46,XY/47,XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46,XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.
authors: Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA.
authors: F Z
authors: FZ
authors: Bischoff
authors: D E
authors: DE
authors: Lewis
authors: J L
authors: JL
authors: Simpson
authors: D D
authors: DD
authors: Nguyen
authors: J
authors: J
authors: Scott
authors: W
authors: W
authors: Schober
authors: S
authors: S
authors: Murrell
authors: S
authors: S
authors: Elias
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D004912:Erythrocytes / Q000648:ultrastructure*; D005260:Female; D005333:Fetus / Q000166:cytology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008423:Maternal Age; D009030:Mosaicism; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis / Q000379:methods* / Q000706:statistics & numerical data; D012680:Sensitivity and Specificity; D012729:Sex Chromosome Aberrations / Q000175:diagnosis