Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushing

Abstract

A procedure which combines the collection of fetal cells by transcervical flushing and in situ hybridisation techniques on nuclei in interphase was used to detect trisomy 18 in a fetus at 12 weeks of gestation. Using a primed in situ labelling method, we could also detect Y-specific sequences in a small percentage of transcervically flushed cells obtained at 8-12 weeks from pregnant women with male fetuses. This approach seems to be suitable for prenatal diagnosis of major chromosomal abnormalities and other selected inherited disorders very early in gestation.