11. Sensitivity analyses.

Test	Number of studies	Number of affected pregnancies	Number of unaffected pregnanciesa	Summary sensitivity % (95% CI)	Summary specificity % (95% CI)	P valueb
Case‐control studies excluded
Autosomes (T21, T18 and T13 combined), selected high‐risk population
MPSS	22	696	11,293	98.3 (95.1 to 99.4)	99.9 (99.8 to 100)	0.72
TMPS	4	219	3,813	98.6 (95.8 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	10	98	5,872	91.9 (73.8 to 97.9)	99.5 (98.8 to 99.8)	0.41
TMPS	2	6	472	93.8 (86.8 to 97.2)	99.6 (98.1 to 99.9)
Exclusion of studies with less than 10 pregnancies with aneuploidy
Autosomes (T21, T18 and T13 combined), selected high‐risk population
MPSS	21	1458	13,921	98.7 (96.8 to 99.4)	99.8 (99.5 to 100)	0.07
TMPS	7	378	4,282	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	6	130	5,761	94.5 (80.6 to 98.6)	99.4 (97.6 to 99.8)	0.28
TMPS	2	90	496	94.4 (87.3 to 97.7)	99.0 (97.6 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.

^bThe P value indicates the statistical significance of the difference in model fit and was obtained from likelihood ratio tests comparing models with and without a covariate for test type.