Trisomy 21 and other chromosomal anomalies Study ref Design LoE N Aim, setting, population, methods Results Comments () Modelling Aim: To use a decision-analytic model to At all ages assessed, screening strategies Potential conflict — — study assess a comprehensive set of outcomes of starting with multiple marker screening of interest prenatal genetic testing strategies among offered the highest detection rate when all women of varying ages. chromosomal anomalies were considered Setting: United States Incorporating cfDNA as an optional secondary screen decreased the number of theoretical cohort of women Population: diagnostic procedures, but also decreased desiring screening the number of anomalies diagnosed Methods: We assessed outcomes of six prenatally, resulting in a similar number of testing strategies incorporating diagnostic procedures per case diagnosed at age testing with chromosomal microarray, 30 years; the option of secondary cfDNA multiple marker screening, cell-free DNA screening becomes more favorable at older screening, and nuchal translucency ages. screening alone, in combination, or in sequence. Outcomes: Clinical outcomes included prenatal detection or birth of a neonate with a significant chromosomal anomaly and diagnostic procedures performed. Other outcomes included maternal adjusted life-years and costs. Sensitivity analyses were conducted to examine the robustness of the findings. Impact of cell-free fetal DNA testing on screening practices and invasive procedures Study ref Design LoE N Aim, setting, population, methods Results Comments
Trisomy 21 and other chromosomal anomalies Study ref Design LoE N Aim, setting, population, methods Results Comments () Modelling study — — Aim: To use a decision-analytic model to assess a comprehensive set of outcomes of prenatal genetic testing strategies among women of varying ages. Setting: United States Population: theoretical cohort of women desiring screening Methods: We assessed outcomes of six testing strategies incorporating diagnostic testing with chromosomal microarray, multiple marker screening, cell-free DNA screening, and nuchal translucency screening alone, in combination, or in sequence. Outcomes: Clinical outcomes included prenatal detection or birth of a neonate with a significant chromosomal anomaly and diagnostic procedures performed. Other outcomes included maternal life-years and costs. Sensitivity analyses were conducted to examine the robustness of the findings. At all ages assessed, screening strategies starting with multiple marker screening offered the highest detection rate when all chromosomal anomalies were considered Incorporating cfDNA as an optional secondary screen decreased the number of diagnostic procedures, but also decreased the number of anomalies diagnosed prenatally, resulting in a similar number of procedures per case diagnosed at age 30 years; the option of secondary cfDNA screening becomes more favorable at older ages. Potential conflict of interest Impact of cell-free fetal DNA testing on screening practices and invasive procedures Study ref Design LoE N Aim, setting, population, methods Results Comments adjusted
cfDNA%20testing%20evidence%20evaluation%2016May17.docx