() SLR I 16 134,691 tests There was a summary sensitivity of 0.906 studies (95% CI 0.823–0.958) and specificity of 1.00 (95% CI 0.999–1.00). The positive likelihood ratio was 453 (95% CI 26–7864) and negative likelihood ratio was 0.188 (95% CI with a diagnostic odds ratio of 2788 (95%CI 285–27252). Of 6/16 studies reporting inconclusive results, 4 documented an explanation for inconclusive results: low fetal fraction; different fragmentation rate; contamination; assay failure; and human error. The only reason given for false results was confirmed low fetal fraction. () SLR I 24 The pooled sensitivity was 97.4% (86.1% to SLR included studies 99.6%) 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 7.1% and specificity estimates by nearly 2%. Monsomy X ref Design LoE N Aim, setting, population, methods Results Comments () SLR I 16 Studies reported on the detection of In individual studies, the detection rate SLR includes studies monosomy X by cfDNA analysis, for a varied between 66.7% and 100% and the case-control combined total of 177 singleton positive rate varied between 0% and studies (Level pregnancies with fetal monosomy X and 0.52%. The pooled weighted detection and and does not 9,079 with no monosomy X. false positive rates were 90.3% (95% CI, include the two and 0.23% (95% CI, 0.14–0.34%), largest studies. respectively.
() SLR I 16 studies 134,691 tests There was a summary sensitivity of 0.906 (95% CI 0.823–0.958) and specificity of 1.00 (95% CI 0.999–1.00). The positive likelihood ratio was 453 (95% CI 26–7864) and negative likelihood ratio was 0.188 (95% CI with a diagnostic odds ratio of 2788 (95%CI 285–27252). Of 6/16 studies reporting inconclusive results, 4 documented an explanation for inconclusive results: low fetal fraction; different fragmentation rate; contamination; assay failure; and human error. The only reason given for false results was confirmed low fetal fraction. () SLR I 24 studies The pooled sensitivity was 97.4% (86.1% to 99.6%) 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 7.1% and specificity estimates by nearly 2%. SLR included case-control studies (Level Monsomy X ref Design LoE N Aim, setting, population, methods Results Comments () SLR I 16 studies Studies reported on the detection of monosomy X by cfDNA analysis, for a combined total of 177 singleton pregnancies with fetal monosomy X and 9,079 with no monosomy X. In individual studies, the detection rate varied between 66.7% and 100% and the positive rate varied between 0% and 0.52%. The pooled weighted detection and false positive rates were 90.3% (95% CI, and 0.23% (95% CI, 0.14–0.34%), respectively. SLR includes case-control studies (Level and does not include the two largest studies.
cfDNA%20testing%20evidence%20evaluation%2016May17.docx