Abstract
Fetal cells were isolated from the peripheral blood of a pregnant woman at 19 weeks of gestation whose fetus had Down syndrome. An amniocentesis had been performed 2 weeks earlier because of abnormalities detected on an antenatal sonogram. Fetal cells were separated by fluorescence-activated cell sorting using monoclonal antibody to the transferrin receptor (TfR). Fluorescence in situ hybridization studies with probes for chromosomes Y and 21 revealed a small number of 47,XY,+21 cells in the TfR- sorted fraction. Although preliminary, the results of this study suggest the possibility that one day, fetal chromosome aneuploidy will be routinely diagnosed from maternal venous blood samples.
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Bianchi, D.W., Mahr, A., Zickwolf, G.K. et al. Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood. Hum Genet 90, 368–370 (1992). https://doi.org/10.1007/BF00220460
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DOI: https://doi.org/10.1007/BF00220460