Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood.
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.
Bianchi
D W
DW
Division of Genetics, Children's Hospital, Boston, MA 02115.
Mahr
A
A
Zickwolf
G K
GK
Houseal
T W
TW
Flint
A F
AF
Klinger
K W
KW
D000328:Adult; D000911:Antibodies, Monoclonal; D001769:Blood; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005069:Evaluation Studies as Topic; D005260:Female; D005333:Fetus / Q000166:cytology; D005434:Flow Cytometry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D011990:Receptors, Transferrin / Q000276:immunology
D000911:Antibodies, Monoclonal; D011990:Receptors, Transferrin