Fetal blood cells can be recovered from the maternal circulation by ch
arge flow separation (CFS), a method that obviates the risks associate
d with amniocentesis and chorionic villus sampling. By CFS, we process
ed blood samples from 13 women carrying male fetuses, 2 carrying fetus
es with trisomy 21, and 1 who had delivered a stillborn infant with tr
isomy 18. On average more than 2000 fetal nucleated red blood cells we
re recovered per 20-ml sample of maternal blood. Recovery of fetal cel
ls was confirmed by fluorescence in situ hybridization with probes for
chromosomes Y, 18 and 21. After culturing of CFS-processed cells, amp
lification by the polymerase chain reaction revealed Y-chromosomal DNA
in clones from four of six women bearing male fetuses, but not in clo
nes from three women bearing female fetuses.