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Detection of low‐grade mosaicism in fetal cells isolated from maternal blood
Author(s) -
Bischoff Farideh Z.,
Lewis Dorothy E.,
Simpson Joe Leigh,
Nguyen Dianne D.,
Scott Jeffrey,
Schober Wendy,
Murrell Sarah,
Elias Sherman
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970151218
Subject(s) - chorionic villus sampling , chorionic villi , prenatal diagnosis , fetus , andrology , aneuploidy , obstetrics , medicine , karyotype , biology , first trimester , second trimester , gynecology , pregnancy , genetics , gene , chromosome
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.