Table 3 Cases with NIPT positive results for deletions/duplications validated by CMA or CNV-Seq analysis
NIPT positive result | Cases (n) | TP | FP | CMA or CNV-Seq result of TP case | Classification |
|---|---|---|---|---|---|
CDC(5pter) | 3 | 1 | 2 | 5p15.33p14.1(38,139 − 27,103,958)×1 | Pathogenic |
PWS/AS (15q11q13) | 3 | 0 | 3 | – | Pathogenic |
DGS(22q11.2) | 3 | 0 | 3 | – | Pathogenic |
del 1p36 | 2 | 0 | 2 | – | Pathogenic |
1q21.1q21.2 gain | 2 | 1 | 1 | 1q21.1q21.2(144,934,509 − 147,826,275)×3 | Pathogenic |
2p16.3p22.2 gain | 1 | 1 | 0 | 2p16.3p22.2(37,260,436 − 48,587,741)×3 | Pathogenic |
2p16.2p16.3 gain | 2 | 1 | 1 | 2p16.2p16.3(51,091,855 − 53,835,161)×3 | Uncertain significance |
2p13.2p11.2 loss | 1 | 1 | 0 | 2p11.2p13.2(72,464,241 − 88,639,638)×1 | Pathogenic |
3q11.2q13.11 gain (mat) | 1 | 1 | 0 | 3q11.1q13.11(93,529,084–105,423,648)×3 (mat) | Uncertain significance |
3p26.3-p26.1loss and 6p25.3-p22.1 gain | 1 | 1 | 0 | 3p26.1p26.3(61,495-8,281,680)×1 | Pathogenic |
|  |  |  | 6p25.3p22.1(137,177,381 − 155,233,098)×3 | Pathogenic | |
4q12-13.1 gain | 1 | 1 | 0 | 4q12q13.1(58,189,484 − 62,742,001)×3 (mat) | Uncertain significance |
5p15.2p15.33 gain | 1 | 1 | 0 | 5p15.33p15.2(38,139 − 11,343,384)×3 | likely pathogenic |
6p12.3 gain | 1 | 1 | 0 | 6p12.3(43,870,083 − 50,134,803))×3 | Uncertain significance |
6q27 loss | 1 | 1 | 0 | 6q27(165,218,392 − 167,604,257)×1 | Uncertain significance |
8p23.2 gain (mat) | 1 | 1 | 0 | 8p23.2(3,694,817-5,950,104)×3 | benign |
9p24.3-p24.1 gain | 1 | 1 | 0 | 9p24.3(46,587–822,594)×1 | Uncertain significance |
9q21.11q34.3(70,693,093–141,127,261)×2 ~ 3 | likely pathogenic | ||||
17q24.2q25.3(65,066,879 − 81,051,007)×3 | likely pathogenic | ||||
10q11.22q11.23 gain | 1 | 1 | 0 | 10q11.22q11.23(47,543,535 − 51,832,220)×3 | Uncertain significance |
11p14.3 loss | 1 | 1 | 0 | 11p14.3(22,937,497 − 25,859,783)×1 | Uncertain significance |
11q13.3q13.4 loss | 1 | 1 | 0 | 11q13.3q13.4(70,241,935 − 72,684,898)×1 | Likely pathogenic |
16p13.12p12.3 loss | 1 | 1 | 0 | 16p13.11p12.3(15,479,879 − 18,164,692)×1 | Uncertain significance |
16q12.3q13.11 gain | 3 | 1 | 2 | 4q35.1(185,776,067–187,061,084)×1; | likely pathogenic |
16p13.11p12.3(15,132,108 − 18,801,583)×3 | Uncertain significance | ||||
16q23.1q23.2 loss | 1 | 1 | 0 | 16q23.1q23.2(77,237,983 − 79,710,481)×1 | Uncertain significance |
18q21.3q22.3 loss | 1 | 1 | 0 | seq[hg19]del(18)(q21.31-q22.3); chr18(g.54,900,000–69,940,000) | Pathogenic |
20p13p12.1 loss | 1 | 1 | 0 | 20p13p12.2(2,648,482 − 11,807,011)×1 | Pathogenic |
22q11.21 loss | 3 | 0 | 3 | – | – |