() Cohort III-2 675,332 Aim: to examine the screening performance Screening based on FTS (1:250) resulted in a Estimates were of a trisomy 21 screening strategy based on detection rate (DR) of 92.2% and a false based on a maternal age, cFTS and cfDNA testing as positive rate (FPR) of 8.0%. detection rate well as the combinations maternal age and of 99.9% and a Screening based on cfDNA resulted in a DR cfDNA and FTS and cfDNA. false positive of 99.9% and a FPR of 0.1%. If a 3% fail rate rate of 0.1% Setting: Germany requiring subsequent invasive testing was postulated, the total FPR was 3.1% and the Population: all births in 2012 DR remained the same. Methods: a model-based approach was When maternal age was combined with used to evaluate all births together with the cfDNA (ie testing only offered to women percentage of euploid and trisomic over 30 years), this resulted in a DR of 85.2% pregnancies. Detection rates (DR), false and a FPR of 1.7%. positive rates (FPR), the costs of different screening strategies for trisomy 21 and combinations of these strategies were compared. The number of fetuses with trisomy 21 at 12+0 weeks of gestation was estimated based on maternal age distribution. Outcomes: Detection of trisomy 21 and Trisomy 21 and other chromosomal anomalies ref Design LoE N Aim, setting, population, methods Results Comments
() Cohort III-2 675,332 Aim: to examine the screening performance of a trisomy 21 screening strategy based on maternal age, cFTS and cfDNA testing as well as the combinations maternal age and cfDNA and FTS and cfDNA. Setting: Germany Population: all births in 2012 Methods: a model-based approach was used to evaluate all births together with the percentage of euploid and trisomic pregnancies. Detection rates (DR), false positive rates (FPR), the costs of different screening strategies for trisomy 21 and combinations of these strategies were compared. The number of fetuses with trisomy 21 at 12+0 weeks of gestation was estimated based on maternal age distribution. Outcomes: Detection of trisomy 21 and Screening based on FTS (1:250) resulted in a detection rate (DR) of 92.2% and a false positive rate (FPR) of 8.0%. Screening based on cfDNA resulted in a DR of 99.9% and a FPR of 0.1%. If a 3% fail rate requiring subsequent invasive testing was postulated, the total FPR was 3.1% and the DR remained the same. When maternal age was combined with cfDNA (ie testing only offered to women over 30 years), this resulted in a DR of 85.2% and a FPR of 1.7%. Estimates were based on a detection rate of 99.9% and a false positive rate of 0.1% Trisomy 21 and other chromosomal anomalies ref Design LoE N Aim, setting, population, methods Results Comments
cfDNA%20testing%20evidence%20evaluation%2016May17.docx