2.
血清学筛查临界风险组NIPT检测阳性结果及妊娠结局
Positive results of noninvasive prenatal genetic testing in serum screening critical-risk group and the pregnancy outcomes
| Serum screening | NIPT | Invasive prenatal diagnosis | Pregnancy outcome |
| Trisomy 21:1/720 | High risk for trisomy 18 | 46, XN | Normal delivery |
| Trisomy 21:1/642 | High risk for trisomy 18 | 46, XN | Normal delivery |
| Trisomy 21:1/797 | High risk for abnormal chromosome 13 |
46, XN | Cesarean section |
| Trisomy 21:1/350 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/279 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/429 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/370 | High risk for abnormal chromosome 7 |
46, XN | Normal delivery |
| Trisomy 21:1/569 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/280 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/390 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/289 | High risk for abnormal sex chromosome |
47, XXX | Rejected to afford information |
| Trisomy 21:1/292 | High risk for trisomy 18 | 46, XN | Cesarean section |
| Trisomy 21:1/720 | High risk for abnormal sex chromosome |
47, XN, +mar | Labor induction |
| Trisomy 21:1/314 | High risk for abnormal sex chromosome |
47, XXX | Labor induction |
| Trisomy 21:1/280 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/356 | High risk for trisomy 13 | 46, XN | Normal delivery |
| Trisomy 21:1/287 | High risk for abnormal sex chromosome |
46, XN; CNVs(-) | Cesarean section |
| Trisomy 21:1/548 | High risk for abnormal sex chromosome |
46, XN | Normal delivery |
| Trisomy 21:1/310 | High risk for abnormal sex chromosome |
46, XN; CNVs(-) | Normal delivery |
| Trisomy 21:1/440 | High risk for abnormal sex chromosome |
46, XN | Cesarean section |
| Trisomy 21:1/578 | High risk for abnormal sex chromosome |
46, XN | Cesarean section |
| Trisomy 21:1/385 | High risk for abnormal sex chromosome |
46, XN | Cesarean section |
| Trisomy 21:1/469 | High risk for abnormal chromosome 7 |
46, XN | Normal delivery |
| Trisomy 21:1/275 | High risk for abnormal chromosome 8 |
46, XN | Cesarean section |
| Trisomy 21:1/630 | High risk for abnormal chromosome 9 and 11 |
46, XN; CNVs(-) | normal delivery |
| Trisomy 21:1/500 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/390 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/310 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/963 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/323 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/430 | High risk for trisomy 21 | 47, XN, +21 | Labor induction |
| Trisomy 21:1/450 | High risk for abnormal sex chromosome |
47, XYY | Cesarean section |
| Trisomy 21:1/366 | High risk for abnormal sex chromosome |
45, X[4]/46, XN[76] | Labor induction |
| Trisomy 21:1/410 | High risk for abnormal sex chromosome |
47, XYY | Labor induction |
| Trisomy 21:1/481 | High risk for abnormal chromosome 21 |
46, XN; CNVs :2.06Mb deletion of 21q21 |
Normal delivery |
| Trisomy 21:1/448 | High risk for abnormal chromosome 7 |
46, XN; CNVs: 494kb deletion of chromosome 8 |
Normal delivery |