Table 3 Overview of false negative cases in NIPT. cFTS, combined first-trimester screening
Case | Maternal age (y) | NT (mm) | Other chromosome diagnosis indication | Chromosome diagnosis time | Chromosome diagnosis result |
|---|---|---|---|---|---|
1 | 26 | 3.0 | Seizures appeared 20 days after birth | Postnatal | CDKL5 c.1136_1139 del TG |
2 | 34 | 3.0 | None | Prenatal | arr[GRCh37] 14q11.2q31.2 × 2 hmz, 63.815Mb, arr[GRCh37] 14q31.2q32.33 × 2 htz, 22.939Mb |
3 | 30 | 3.2 | High-risk in cFTS | Prenatal | arr[GRCh37]16p11.2 × 1, 597kb |
4 | 33 | 3.3 | High-risk in Cfts Abnormal ultrasound finding (cystic hygroma; nasal bone dysplasia) | Prenatal | arr[GRCh37] 9q34.3 × 1, 332Kb |
5 | 33 | 3.7 | High-risk in cFTS | Prenatal | arr[GRCh37] 16p11.2 × 1, 761 Kb |
6 | 26 | 3.8 | Abnormal developmental assessment at 18 months | Postnatal | arr[GRCh37] 15q11.2q13.1 × 1, 6.22Mb |
7 | 33 | 4.6 | High-risk in cFTS | Prenatal | 47,XN, + 21 |
8 | 30 | 4.9 | Abnormal ultrasound finding (aberrant left subclavian artery, dextro-aortic arch) | Prenatal | arr[GRCh37]22q11.21 × 1, 3.152Mb |
9 | 27 | 5.2 | High-risk in cFTS | Prenatal | arr[GRCh37]Xp21.1 × 2, 628kb, including Duchenne muscular dystrophy gene |
10 | 30 | 5.9 | Abnormal ultrasound finding (right clubfeet) | Prenatal | arr[GRCh37]9q21.33q31.2 × 1, 20.376 Mb |