
The objective of the study was to compare cell-based non-invasive prenatal testing (cbNIPT) to chorionic villus sampling (CVS) and evaluate the test characteristics of cbNIPT compared to cell-free NIPT (cfNIPT). In Study 1, 92 women who underwent CVS were recruited for cbNIPT, and it successfully detected all identified abnormalities. In Study 2, 282 women who underwent cfNIPT were recruited for cbNIPT, which again demonstrated accurate detection of trisomies without false positives. cbNIPT also detected cases of mosaicism in both studies. The study concludes that analyzing circulating trophoblasts in maternal circulation has the potential to screen for aneuploidies and pathogenic copy number variations throughout the fetal genome.
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