Table 1.
NIPT Performance for Detecting Trisomies 21, 18, and 13
| - | - | Cases without Confirmatory Testing | Cases with Confirmatory Diagnostic Testing | |||||
|---|---|---|---|---|---|---|---|---|
| NIPT result | n | IUFD (n) | TOP (n) | True Positive (n) | Discordant Positive (n) | Discordant Negative (n) | Sensitivity, % (95% CI) | PPV, % (95% CI) |
| T21 | 239 | 14 | 2 | 214a | 9 | 5 | 98 (95–99) | 96 (93–98) |
| T18 | 49 | 0 | 0 | 48 | 1 | 5 | 91 (79–97) | 98 (87–100) |
| T13 | 55 | 3 | 1 | 27 | 24 | 0 | 100 (87–100) | 53 (43–63) |
CI, confidence interval; IUFD, intrauterine fetal demise; n, number; NIPT, non-invasive prenatal test; PPV, positive predictive value; TOP, termination of pregnancy; T, trisomy
a
Includes two cases without cytogenetic confirmation, but with a clinical diagnosis of Down syndrome.