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We report the detection of fetal cells in the maternal circulation by enzymatic amplification of a single copy gene sequence that was fetal-specific. Fetal HLA-A2-positive cells were sorted from maternal HLA-A2-negative cells by flow cytometry and confirmed by demonstration of a fetal-specific HLA-DR4 sequence. However, this sequence could not be detected in unenriched maternal DNA prepared at 28 and 32 weeks' gestation. The sensitivity of detection was 1 HLA-DR4-positive cell in 10(5) HLA-DR4-negative cells. We conclude that prenatal diagnosis of paternally inherited autosomal-dominant genetic defects may be possible by selective gene amplification of maternal peripheral blood. However, preliminary enrichment for fetal cells may be necessary.


Journal article


Prenat Diagn

Publication Date





117 - 123


Female, Fetus, Flow Cytometry, Gene Amplification, HLA-A2 Antigen, HLA-DR Antigens, HLA-DR4 Antigen, Humans, Nucleic Acid Hybridization, Oligonucleotide Probes, Polymerase Chain Reaction, Pregnancy