() Modelling 100,000 Aim: to conduct a quantitative analysis of cfDNA as the first screening test detects Model assumed — different cfDNA testing strategies. almost all fetal Down syndrome cases (87.5% a sensitivity of at 10 weeks, 82.5% at 13 weeks compared 99.6% and Setting: The Netherlands to 78.5% with classical first trimester specificity of Population: Theoretical cohort of pregnant screening). 99.9% for cfDNA women testing for Rates of fetal loss due to amniocentesis Methods: Decision were created to trisomy 21 in complications are lower (n=2 at 10 weeks or illustrate all plausible alternatives in five high- and 13 weeks versus 25 with classical first screening programmes: classical screening pregnancies trimester screening) as fewer women by the first-trimester combined test (FCT), and a sensitivity undergo amniocentesis (n=234 vs 4,056). pre-selection of high-risk women prior to of 89% and cfDNA by the FCT, cfDNA as the first specificity of screening test at 10 weeks and at 13 weeks, 95.4% for cFTS. and the simultaneous conductance of cfDNA and the FCT. Outcomes: Detection of trisomy 21, rates of amniocentesis and procedure-related fetal loss.
() Modelling — 100,000 Aim: to conduct a quantitative analysis of different cfDNA testing strategies. Setting: The Netherlands Population: Theoretical cohort of pregnant women Methods: Decision were created to illustrate all plausible alternatives in five screening programmes: classical screening by the first-trimester combined test (FCT), pre-selection of high-risk women prior to cfDNA by the FCT, cfDNA as the first screening test at 10 weeks and at 13 weeks, and the simultaneous conductance of cfDNA and the FCT. Outcomes: Detection of trisomy 21, rates of amniocentesis and procedure-related fetal loss. cfDNA as the first screening test detects almost all fetal Down syndrome cases (87.5% at 10 weeks, 82.5% at 13 weeks compared to 78.5% with classical first trimester screening). Rates of fetal loss due to amniocentesis complications are lower (n=2 at 10 weeks or 13 weeks versus 25 with classical first trimester screening) as fewer women undergo amniocentesis (n=234 vs 4,056). Model assumed a sensitivity of 99.6% and specificity of 99.9% for cfDNA testing for trisomy 21 in high- and pregnancies and a sensitivity of 89% and specificity of 95.4% for cFTS.
cfDNA%20testing%20evidence%20evaluation%2016May17.docx