Table 2 NIPT results for chromosome aneuploid and microdeletions/microduplications validated by fetal karyotyping analyses or FISH
No. of chromosome | Aneuploid | Microdeletions and microduplications | ||||||
|---|---|---|---|---|---|---|---|---|
Positive cases | True-positive cases | False-positive cases | Unverified | Positive cases | True-positive cases | False-positive cases | Unverified | |
Chr1 | / | / | / | / | 1 | 0 | 0 | 1 |
Chr2 | / | / | / | / | 1 | 1 | 0 | 0 |
Chr3 | / | / | / | / | 2 | 0 | 1 | 1 |
Chr4 | / | / | / | / | 3 | 1 | 1 | 1 |
Chr6 | / | / | / | / | 1 | 1 | 0 | 0 |
Chr7 | / | / | / | / | 4 | 1 | 2 | 1 |
Chr8 | / | / | / | / | 10 | 1 | 8 | 1 |
Chr9 | / | / | / | / | 1 | 0 | 1 | 0 |
Chr10 | / | / | / | / | 1 | 1 | 0 | 0 |
Chr13 | 11 | 1 (14.28%) | 6 (85.71%) | 4 | 1 | / | / | 1 |
Chr14 | / | / | / | / | 2 | 1 | 1 | 0 |
Chr15 | / | / | / | / | 4 | 1 | 3 | 0 |
Chr16 | / | / | / | / | 2 | 0 | 2 | 0 |
Chr18 | 7 | 3 (60%) | 2 (40%) | 2 | 6 | 1 | 0 | 5 |
Chr20 | / | / | / | / | 3 | 0 | 2 | 1 |
Chr21 | 36 | 20 (80%) | 5 (20%) | 11 | 3 | 2 | 1 | 0 |
Chr22 | / | / | / | / | 2 | 1 | 1 | 0 |
X or Y | 34 | 11 (45.83%) | 13 (54.17%) | 10 | 4 | 1 | 0 | 3 |
Total | 88 (1.08%) | 35 (57.38%) | 26 (42.62%) | 27 | 51 (0.63%) | 13 (36.11%) | 23 (63.89%) | 15 |