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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.

Type

Journal article

Journal

Prenat diagn

Publication Date

02/1991

Volume

11

Pages

117 - 123

Keywords

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