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Detection of low-grade mosaicism in fetal cells isolated from maternal blood
F Z Bischoff1, D E Lewis, J L Simpson
1Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA.
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.
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.