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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

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

Nipt results n Loss to follow-up No confirmatory testing Confirmatory diagnostic testing
  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)
  1. 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