Fetal aneuploidies | High risk of NIPS (n) | Screen positive rate (%) | TP (n) | FP (n) | FPR (%) | PPV (%, 95% CI) | Remarks |
|---|
Trisomy | 14 | 0.21a | 8c | 6 | 0.09 | 57.14 (29.65–81.19) | |
T21 | 6 | 0.09 | 4 | 2 | 0.03 | 66.67 (24.11–94.00) | |
T18 | 5 | 0.08 | 4 | 1 | 0.02 | 80.00 (29.88–98.95) | |
T13 | 3 | 0.05 | 0 | 3 | 0.05 | – | Confirmed 1 P CNVse |
SCA | 23 | 0.35b | 7d | 16 | 0.24 | 30.43 (14.06–53.01) | |
45,X | 12 | 0.18 | 2 | 10 | 0.15 | 16.67 (2.94–49.12) | |
47,XXX | 5 | 0.08 | 0 | 5 | 0.08 | – | |
47,XYY | 3 | 0.05 | 3 | 0 | 0.00 | 100.00 (31.00–100.00) | |
47,XXY | 3 | 0.05 | 2 | 1 | 0.02 | 66.67 (12.53–98.23) | |
CNVs | 59 | 0.89 | 21 | 38 | 0.57 | 35.59 (23.87–49.20) | Confirmed 5 P CNVsf |
- NIPS noninvasive prenatal screening, T21 trisomy 21, T18 trisomy 18, T13 trisomy 13, SCA sex chromosome aneuploidy, CNVvs copy number variants, P pathogenic, TP true positive, FP false positive, FPR false positive rate, FN false negative, PPV positive predictive value
- aScreen positive rate: high-risk trisomy cases vs. high-risk CNVs cases, p < 0.001
- bScreen positive rate: high-risk SCA cases vs. high-risk CNVs cases, p < 0.001
- cTrue positive rate: true positive trisomy vs. true positive CNVs, p = 0.016
- dTrue positive rate: true positive SCA vs. true positive CNVs, p = 0.008
- eConfirmed one P CNV: non-concordant with positive NIPS (delXp21.1 (0.32 Mb))
- fConfirmed five P CNVs: two non-concordant with positive NIPS (del15q11.2 (0.36 Mb) and del16p11.2 (0.60Mb)), two concordant with positive NIPS (positive), and one with negative NIPS (false negative, del2q37.3 (4.29 Mb))
