Detection of low-grade mosaicism in fetal cells isolated from maternal blood.
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.
Bischoff
F Z
FZ
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA.
Lewis
D E
DE
Simpson
J L
JL
Nguyen
D D
DD
Scott
J
J
Schober
W
W
Murrell
S
S
Elias
S
S
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