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Detection of low-grade mosaicism in fetal cells isolated from maternal blood |
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| Authors: | Farideh Z. Bischoff PhD Dorothy E. Lewis Joe Leigh Simpson Dianne D. Nguyen Jeffrey Scott Wendy Schober Sarah Murrell Sherman Elias |
| Affiliation: | 1. Department of Microbiology and Immunology, Baylor College of Medicine, Houston, TX 77030, U.S.A.;2. Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, U.S.A. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, U.S.A.;3. Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, U.S.A.;4. Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, U.S.A. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, U.S.A. University of Tennessee, Memphis, Tennessee, U.S.A. |
| 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. |
| Keywords: | fetal cells in maternal blood FISH mosaicism chorionic villus |