Case | NIPS | Prenatal diagnosis | Pregnancy outcome | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Result | Size (Mb) | Z-score | Fetal fraction | Unique reads (Mb) | Result | Size (Mb) | Syndrome | Type | ||
1 | gain(2q14.1-q21.1)(114,500,000–130,999,999) | 16.5 | 11.15 | 10.05 | 3.03 | arr[GRCh37] 2q31.1q33.3(175,042,562–206,347,968)x2hmz | 31.0 | – | LOH | Birth |
gain(2q35-q37.3)(216,500,000–237,999,999) | 21.5 | arr[GRCh37] 2q11.1q13(95,550,957–114,045,382) × 2 hmz | 18.5 | LOH | ||||||
gain(2p25.3-p24.1)(500,000–20,499,999) | 20.0 | arr[GRCh37] 2p15p11.2(62,680,101–87,053,152) × 2 hmz | 24.4 | LOH | ||||||
2 | gain(5p15.33)(0–1,999,999) | 2.0 | 0.71 | 13.97 | 3.86 | arr[GRCh37] 5p13.2p13.1(36,902,395–38,963,081) × 3 | 2.0 | 5p13 microduplication syndrome | P | TOP |
3 | gain(9q33.3-q34.3)(129,000,000–140,499,999) | 11.5 | 4.62 | 8.67 | 2.48 | arr[GRCh37] 9q31.1q33.1(107,923,508–121,624,320) × 3 | 13.7 | – | VUS | Birth |
4 | gain(16q23.1)(76,000,000–78,999,999) | 3.0 | 4.18 | 10.23 | 2.16 | arr[GRCh37] 16q23.1q24.3(78,969,980–90,146,366) × 2 hmz | 11.0 | – | LOH | Birth |
arr[GRCh37] 16p13.3p12.3(94,807–19,500,124) × 2 hmz | 19.0 | LOH | ||||||||
5 | gain(16q23.1)(76,500,000–78,499,999) | 2.0 | 0.47 | 13.58 | 2.82 | arr[GRCh37] 16p13.11(14,900,042–16,278,133) × 3 | 1.4 | – | LP | TOP |