() SLR I 24 146,940 tests Bivariate meta-analysis produced a Neither test studies summary sensitivity of 0.977 (95% technique nor and specificity of 0.999 (95% CI population risk a positive likelihood of 1569 (95% had a significant CI 810–3149) and negative likelihood ratio of effect. 0.023 (95% CI 0.011–0.048). Of 12/ 24 studies reporting inconclusive results, seven documented an explanation (in order of frequency): low fetal fraction; test failure; no reason given; mosaicism. The most common reasons given for false results were: confirmed low fetal fraction; confirmed mosaicism; presumed low fetal fraction/human error; maternal CNV; no reason given. () SLR I 33 The pooled sensitivity was 97.4% (95.8% to SLR included studies 98.4%) and specificity was 99.9% (99.9% to case-control 100%). studies (Level Including test failures in an intention to diagnose analysis in the meta-analysis decreased sensitivity estimates by 1.6% and specificity estimates by nearly 2%. Trisomy 13 Study ref Design LoE N Aim, setting, population, methods Results Comments () SLR I 18 Studies reported on the performance of In individual studies, the detection rate SLR includes studies screening by cfDNA analysis for trisomy 13, in varied between 40.0% and 100% and the case-control a combined total of 139 trisomy-13 and false positive rate varied between 0% and studies (Level 18,059 non-trisomy-13 singleton pregnancies. 1.14%. The pooled weighted detection and and does not false positive rates were 91.0% (95% CI, include the two and 0.13% (95% CI, 0.05–0.26%), largest studies. respectively.
() SLR I 24 studies 146,940 tests Bivariate meta-analysis produced a summary sensitivity of 0.977 (95% and specificity of 0.999 (95% CI a positive likelihood of 1569 (95% CI 810–3149) and negative likelihood ratio of 0.023 (95% CI 0.011–0.048). Of 12/ 24 studies reporting inconclusive results, seven documented an explanation (in order of frequency): low fetal fraction; test failure; no reason given; mosaicism. The most common reasons given for false results were: confirmed low fetal fraction; confirmed mosaicism; presumed low fetal fraction/human error; maternal CNV; no reason given. Neither test technique nor population risk had a significant effect. () SLR I 33 studies The pooled sensitivity was 97.4% (95.8% to 98.4%) and specificity was 99.9% (99.9% to 100%). Including test failures in an intention to diagnose analysis in the meta-analysis decreased sensitivity estimates by 1.6% and specificity estimates by nearly 2%. SLR included case-control studies (Level Trisomy 13 Study ref Design LoE N Aim, setting, population, methods Results Comments () SLR I 18 studies Studies reported on the performance of screening by cfDNA analysis for trisomy 13, in a combined total of 139 trisomy-13 and 18,059 non-trisomy-13 singleton pregnancies. In individual studies, the detection rate varied between 40.0% and 100% and the false positive rate varied between 0% and 1.14%. The pooled weighted detection and false positive rates were 91.0% (95% CI, and 0.13% (95% CI, 0.05–0.26%), respectively. SLR includes case-control studies (Level and does not include the two largest studies.
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