Fetal cells unequivocally exist in and can be isolated from maternal b
lood. Erythroblasts, trophoblasts, granulocytes and lymphocytes have a
ll been isolated by various density gradient and flow sorting techniqu
es. Chromosomal abnormalities detected on isolated fetal cells include
trisomy 21, trisomy 18, Klinefelter syndrome (47,XXY) and 47,XYY. Pol
ymerase chain reaction (PCR) technology has enabled the detection of f
etal sex, Mendelian disorders (e.g. beta-globin mutations), HLA polymo
rphisms, and fetal Rhesus (D) blood type. The fetal cell type that has
generated the most success is the nucleated erythrocyte; however, tro
phoblasts, lymphocytes and granulocytes are also considered to be pres
ent in maternal blood. Fetal cells circulate in maternal blood during
the first and second trimesters, and their detection is probably not a
ffected by Rh or ABO maternal-fetal incompatibilities. Emphasis is now
directed toward determining the most practical and efficacious manner
for this technique to be applied to prenatal genetic diagnosis. Only
upon completion of clinical evaluations could it be considered appropr
iate to offer this technology as an alternative to conventional invasi
ve and non-invasive methods of prenatal cytogenetic diagnosis.