表 1. The findings of a-CGH in 3 578 abnormal serologic prenatal screening results of DS.
3 578例唐氏综合征血清学产前筛查结果异常孕妇羊水a-CGH检测结果
| Group | n | a-CGH results/case (%) | ||||
| Chromosomal abnormallities | Trisomy 21/trisomy 18 | Aneuploidies | pCNVs/lpCNVs | VUS | ||
| pCNVs: Pathogenic CNVs; lpCNVs: Likely pathogenic CNVs; VUS: Variant of uncertain significance; MoM: Multiple of median. | ||||||
| High risk | 2 624 | 93 (3.54) | 36 (1.37) | 50 (1.91) | 43 (1.64) | 28 (1.07) |
| Borderline risk | 662 | 19 (2.87) | 5 (0.76) | 7 (1.06） | 12 (1.81) | 6 (0.91) |
| Abnormal MoM | 292 | 9 (3.08) | 1 (0.34) | 3 (1.03） | 6 (2.05) | 3 (1.03) |
| Total | 3 578 | 121 (3.38） | 42 (1.17） | 60 (1.68） | 61 (1.70) | 37 (1.03) |
| P | 0.663 | 0.163 | 0.210 | 0.849 | 0.935 | |