9. Subgroup analyses of MPSS and TMPS (type of pregnancy and gestational age).
| Test subgroups |
Number of studies |
Number of affected pregnancies |
Number of unaffected pregnanciesa |
Sensitivityb % (95% CI) |
Specificityb % (95% CI) |
|
| Pregnancy type | ||||||
| Autosomes (T21, T18 and T13 combined), unselected population | ||||||
| MPSS | singleton | 1 | 11 | 1730 | 100 (74.1 to 100) | 99.9 (99.7 to 100) |
| TMPS | singleton | 3 | 107 | 20,468 | 95.5 (87.4 to 98.4) | 99.9 (99.8 to 100) |
| multifetal | 1 | 11 | 181 | 90.9 (62.3 to 98.4) | 100 (97.9 to 100) | |
| Autosomes (T21, T18 and T13 combined), selected high‐risk population | ||||||
| MPSS | singleton | 19 | 1087 | 11,180 | 98.3 (97.3 to 98.9) | 99.6 (99.5 to 99.7) |
| multifetal | 3 | 21 | 206 | 95.2 (72.9 to 99.3) | 100 (98.2 to 100)c | |
| TMPS | singleton | 7 | 378 | 4282 | 98.9 (97.2 to 99.6) | 99.9 (99.8 to 100) |
| SCA (45,X, 47,XXX, 47,XXY and 47,XYY combined), selected high‐risk population | ||||||
| MPSS | singleton | 7 | 101 | 4690 | 88.3 (52.9 to 98.1) | 99.3 (97.5 to 99.8) |
| TMPS | 4 | 96 | 968 | 93.8 (86.8 to 97.2) | 99.6 (98.1 to 99.9) | |
| Gestational age | ||||||
| Autosomes (T21, T18 and T13 combined), unselected population | ||||||
| MPSS | ≤29 weeks | 1 | 11 | 1730 | 100 (74.1 to 100) | 99.9 (99.7 to 100) |
| TMPS | ≤15 weeks | 4 | 118 | 20,649 | 94.9 (89.1 to 97.7) | 99.9 (99.8 to 99.9) |
| Autosomes (T21, T18 and T13 combined), selected high‐risk population | ||||||
| MPSS | ≤15 weeks | 3 | 49 | 532 | 100 (92.7 to 100)c | 100 (99.3 to 100)c |
| ≤29 weeks | 12 | 594 | 4605 | 98.3 (96.9 to 99.1) | 99.3 (99.0 to 99.5) | |
| ≤42 weeks | 13 | 729 | 7831 | 98.9 (95.0 to 99.8) | 99.9 (99.8 to 99.9) | |
| TMPS | ≤15 weeks | 2 | 128 | 498 | 99.2 (95.7 to 99.9)c | 100 (99.2 to 100)c |
| ≤29 weeks | 2 | 33 | 535 | 97.0 (84.7 to 99.5)c | 100 (99.3 to 100)c | |
| ≤42 weeks | 2 | 163 | 3084 | 99.4 (95.8 to 99.9) | 99.9 (99.7 to 100) | |
| SCA (45,X, 47,XXX, 47,XXY and 47,XYY combined), selected high‐risk population | ||||||
| MPSS | ≤15 weeks | 1 | 2 | 202 | 0.00 (0.00 to 65.8) | 99.5 (97.2 to 99.9) |
| ≤29 weeks | 5 | 58 | 996 | 86.5 (63.1 to 96.0) | 95.1 (93.5 to 96.3) | |
| ≤42 weeks | 5 | 89 | 6103 | 95.8 (80.3 to 99.2) | 99.6 (99.4 to 99.7) | |
| TMPS | ≤15 weeks | 2 | 58 | 343 | 93.1 (83.0 to 97.4) | 99.7 (98.0 to 100) |
| ≤42 weeks | 1 | 34 | 380 | 97.1 (85.1 to 99.5) | 98.9 (97.3 to 99.6) | |
45,X: Turner syndrome, 47,XXX: triple X syndrome, 47,XXY: Klinefelter syndrome, T21: trisomy 21, T18: trisomy 18, T13: trisomy 13 CI: confidence interval, MPSS: massively parallel shotgun sequencing, SCA: sex chromosome aneuploidies, TMPS: targeted massively parallel sequencing.
aWe included pregnancies with any other aneuploidy than the one under analysis with all euploid cases as "unaffected" pregnancies.
bFor two or more studies, the sensitivities and specificities are the summary estimates obtained from meta‐analysis.
cSimple pooling used to obtain summary estimates of sensitivity, specificity or both.