
This study aimed 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, successfully detecting chromosomal aberrations, trisomies 13, 18, and 21, pathogenic copy number variations (CNVs), and sex chromosome aberrations. Additionally, cbNIPT identified cases of mosaicism in the placenta. In Study 2, 282 women who opted for cfNIPT were recruited for cbNIPT, which accurately detected trisomies identified by cfNIPT and had no false positives. However, cbNIPT had a higher failure rate compared to cfNIPT. The findings suggest that cbNIPT using circulating trophoblasts in the maternal circulation has the potential for comprehensive screening of fetal aneuploidies and pathogenic CNVs.
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