Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

This is the protocol for a review and there is no abstract. The objectives are as follows:To determine and compare the diagnostic accuracy of massively parallel shotgun sequencing (MPSS) and targeted massively parallel sequencing (TMPS) using plasma circulating cell-free DNA (ccfDNA) for the detection of common fetal aneuploidies in pregnant women.We will evaluate the screening performance of MPSS and TMPS as triage tests (a second tier test) for deciding which pregnant women (increased risk for fetal aneuploidy) should receive further testing after a first tier screening and before a diagnostic test.To assess the diagnostic performance of MPSS and TMPS as a first tier test in pregnant women with no a priori risk (i.e. in all pregnant women) as a replacement for other first tier tests. In addition, we will assess the diagnostic performance of MPSS and TMPS as a second tier test as a replacement for the diagnostic test. We also aim to investigate potential sources of heterogeneity that may influence the diagnostic accuracy of MPSS and TMPS such as gestational age at the time of blood collection and type of reference standard used.