Table 1.
Demographic characteristics of the the study cohort.
Fig 1.
Flowchart of the NIPT results and outcomes of pregnant women.
NIPT, non-invasive prenatal test; n, number; T, trisomy; SCA, sex chromosome aneuploidy; RAA, rare autosomal aneuploidy; CNV, copy number variation; CMA, chromosomal microarray analysis; FISH, fluorescence in situ hybridization. *Include 1,315 cases that underwent both karyotyping and CMA.
Table 2.
NIPT performance for common trisomies, SCA, RAA and CNV.
Fig 2.
Distribution of diagnosed cases of SCA high risk of NIPT.
The number at the top of the pillar represents the PPV for each SCA category. NIPT, non-invasive prenatal test; FP, false positive; TP, true positive; SCA, sex chromosome aneuploidy.
Fig 3.
Distribution of diagnosed cases of CNV high risk of NIPT.
The number at the top of the pillar represents the PPV for each CNV category. NIPT, non-invasive prenatal test; FP, false positive; TP, true positive; CNV, copy number variation; Mb, megabyte.
Table 3.
Overview of fetal mosaicisms.