Table 1 The results of NIPT, CMA and follow-up Outcomes
Case | Age | Gestational age | NIPT outcome | Prenatal Diagnosis (CMA) | Inheritance | Pregnancy outcome | |
|---|---|---|---|---|---|---|---|
Maternal | Paternal | ||||||
1 | 32 | 19 | gain(17q12) (34,500,000–36499999) (2.0 Mb) | arr[GRCh37] 17q12(34440088_36311009) × 3 | arr[GRCh37] 17q12(34405514_36307773) × 3 | 46, XY | TOP |
2 | 33 | 22 | gain(17q12) (34,500,000–36499999) (2.0 Mb) | arr[GRCh37] 17q12(34822465_36351919) × 3 | – | – | TOP |
3 | 35 | 18 + 3 | gain(17q12) (32,500,000–35499999) (3.0 Mb) | 46, XX | – | – | Born, 40 + 1 weeks, female, 3740 g |
4 | 33 | 19 + 1 | X + Y, gain(17q12) (34,400,000–36499999) (3.0 Mb) | arr[GRCh37] 17q12(34421210_36351919) × 3 | 47, XXX | arr[GRCh37] 17q12(34421210_36351919) × 3 | Born, 37 + 2 weeks, male, 3450 g |