Skip to main content

Table 2 The detection efficiency of SCA, other chromosome aneuploidy, and CNVs in NIPT

From: Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations

NIPT Positive TP FP Unverified PPV (%)
SCA 155 37 55 63 40.22
45,X 71 7 33 31 17.50
47,XXY 39 13 10 16 56.52
47,XXX 30 10 8 12 55.56
47,XYY 15 7 4 4 64.64
Other chromosome aneuploidy 69 3 38 28 7.32
T7 13 0 8 (likely placental mosaicism) 5 Not estimable
T8 12 0 7 (likely placental mosaicism) 5 Not estimable
T16 13 0 7 (likely placental mosaicism) 7 Not estimable
M18 4 0 4 0 0.00
T15 6 0 3 3 0.00
T2 5 2 1 2 66.67
T9/M21 5 0 4 (2/2) 1 0.00
T3/T5/T6/T10/T14 11 0 5 (1/1/1/1/1) 6 0.00
CNV 95 25 26 44 49.02
CNV < 5 Mb 42 18 15 9 54.55
CNV 5–10 Mb 25 5 8 12 38.46
CNV > 10 Mb 28 2 5 21 40.00