Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood

✍ Scribed by Diana W. Bianchi; Anna Mahr; Gretchen K. Zickwolf; Timothy W. Houseal; Alan F. Flint; Katherine W. Klinger

• Book ID: 104669504
• Publisher: Springer
• Year: 1992
• Tongue: English
• Weight: 653 KB
• Volume: 90
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00220460

✦ Synopsis

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.