Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

Table 2 NIPT performance for detecting trisomies 21, 18, and 13 and sex chromosome aneuploidies: cases with high risk NIPT results, including singleton and twin pregnancies

Nipt results	n	Loss to follow-up	No confirmatory testing		Confirmatory diagnostic testing
Nipt results	n		IUFD (n)	TOP (n)	TP (n)	FP (n)	PPV% (95% CI)
T21	254	1	4	0	247	2	99.2 (99.1, 99.3)
T18	69		0	1	62	6	91.2 (91.0, 91.6)
T13	33		1	0	27	5	84.4 (84.5, 85.2)
SCA	145		8	2	117	18	86.7 (86.2, 87.9)
Total	501	1	13	3	453	31	93.6 (91.4, 95.8)

CI confidence interval, IUFD intrauterine fetal demise, n number, NIPT non-invasive prenatal test, PPV positive predictive value, SCA sex chromosome aneuploidy, TOP termination of pregnancy, T trisomy, TP true-positive, FP false positive

ISSN: 1755-8794