The establishment and clinnical application of a enrichment technique of fetal nucleated cells from maternal peripheral blood for prenatal diagnosis

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The purpose of this study was to establish a new prenatal diagnostic method using fetal nucleated cells in maternal peripheral blood. The NRBCs (nucleated red blood. The NRBCs (nucleated red cells) in maternal blood were separated and enriched by FACS (fluorescence activated cell sorting) technique and were analyzed using FISH (fluorescence in situ hybridization) method. The results of the study showed several new findings as follows ;1.It was confirmed that FACS with a combination of specific antibodies had the potential to separate and enrich NRBCs from peripheral blood samples of pregnant women.2.The frequency of fetal NRBCs in maternal peripheral blood had a tendency to decrease as the pregnancies advanced.3.The sorted samples from pregnant women who had male fetuses were analyzed by FISH with Y-specific probe. The fetal cells in the sorted NRBCs were determined by FISH.95% of the sorted NRBCs were, however, maternal in origin.4. In this series, the specificity of the fetal sex diagnosis was 100%, the sensitivity was 88%, the negative predictive value was 86%, and the positive predictive value was 100%.FACS has the effective potential to separate and enrich fetal NRBCs from maternal peripheral blood. Further improvement of this new diagnostic method is needed to use in clinical genetic diagnosis.