Table 1.
Summary of clinical studies of NIPT test outcomes.
| Authors and Year | Subject | Sensitivity | Specificity | Positive Predictive Value | False Positives |
|---|---|---|---|---|---|
| Canick JA et al., 2012 [97] | T21, T18, and T13 screening using maternal plasma of 25 twin pregnancies via massive parallel shotgun sequencing | T13: 100% | T13: 100% | Not reported | 0% |
| T21: 100% | T21: 100% | ||||
| Lau TK et al., 2013 [100] | T21 detection with NIPT among 12 twin pregnancy cases | T21: 100% | T21: 100% | Not reported | Not reported |
| Norton ME et al., 2015 [93] | 15,841 pregnant women that underwent standard screening of nuchal translucency measurement with biochemical tests and NIPT to detect T21, T18, and T13 | T13: 100% | T13: 100% | T13: 50% | T13: 2 out of 15,841 pregnancies |
| T18: 90% | T18: 100% | T18: 90% | T18: 1 out of 15,841 pregnancies | ||
| T21: 100% | T21: 99.9% | T21: 80.9% | T21: 9 out of 15,841 pregnancies | ||
| Gil MM et al., 2015 [89] | Meta-analysis of 37 studies comparing traditional screening methods with NIPT | Singleton pregnancies | Not reported | Not reported | Singleton pregnancies |
| T13: 90.3% | T13: 0.23% | ||||
| T18: 91.0% | T18: 0.13% | ||||
| T21: 96.3% | T21: 0.13% | ||||
| Twin pregnancies | Twin pregnancies | ||||
| T21: 97.3% | T21: 0.23% | ||||
| Gerundinho et al., 2016 [65] | 195 samples with aneuploid enrichment | T13: 99.9% | T13: 99.4% | Not reported | T13: 2 out of 7 pregnancies |
| T18: 99.9% | T18: 99.9% | T18: 0 out of 6 pregnancies | |||
| T21: 99.9% | T21: 98.9% | T21: 2 out of 43 | |||
| Akbari M et al., 2018 [43] | 100 pregnant women underwent NIPT | T21: 100% | T21: 100% | T21:100% | 0.10% |
| Yang et al., 2018 [95] | 432 twin pregnancies underwent NIPT to detect chromosomal aneuploidies | T18: 100% | 99.53% (combined specificity) | Not reported | 1 false positive for T7 and sex chromosome aneuploidy |
| T21: 100% | |||||
| Kostenko E et al., 2019 [90] | Pregnant women that chose to undergo first-trimester screening or second-trimester screening tests or NIPT | T13: 93.80% | T13: 99.98% | T21: 78.6% | Not reported |
| T18: 97.40% | T18: 99.98% | ||||
| T21: 100% | T21: 99.90% | ||||
| Kim et al., 2019 [91] | Retrospective analysis of 1055 maternal serum samples | T13: 100% | T13: 99.99% | T13: 90% | 2 false positives for T13 and T21 3 false positives for T18 |
| T18: 92.9% | T18: 100% | T18: 100% | |||
| T21: 100% | T21: 99.99% | T21: 98.3% | |||
| Lu W et al., 2020 [92] | 36,913 women with singleton pregnancies assigned to NIPT | T13: 100% | T13: 99.95% | T13: 41.94% | 18 false positives for T13 |
| T18: 100% | T18: 99.95% | T18: 58.70% | 19 false positives for T18 | ||
| T21: 100% | T21: 99.94% | T21: 84.67% | 21 false positives for T21 | ||
| Dai R et al., 2021 [94] | 17,428 pregnant women that underwent NIPT | Not reported | Not reported | PPV of 75% for T13, T18, and T21 T21: 84.38%; T18: 61.54%; T13: 33.33% |
2 false positives for T13 |
| 5 false positives for T18 | |||||
| 5 false positives for T21 | |||||
| Chen Y et al., 2022 [99] | 14,574 women with singleton pregnancies and 6471 women with twins that underwent NIPT screening | Sensitivity for T13, T18, and T21 was 100% | Specificity for T13, T18, and T21 was over 99% | T13: 100% | 2 false positives for T13 |
| T18: 75.00% | 3 false positives for T18 | ||||
| T21: 93.75% | 2 false positives for T21 |