() Aim: To examine the cost and performance This modeling study demonstrates that — implications of introducing cell-free DNA introducing contingent cfDNA testing analysis (cfDNA) testing within modeled scenarios in improves performance by increasing the a publicly funded Canadian provincial number of cases of trisomy 21 detected Down syndrome (DS) prenatal screening prenatally, and reducing the number of program. amniocenteses performed and concomitant iatrogenic pregnancy loss of Setting: Canada pregnancies not affected by trisomy 21. Method: Two clinical algorithms were Contingent models of cfDNA testing can created: the to represent the current improve overall screening performance screening program and the second to while maintaining the provision of an 11- to represent one that incorporates cfDNA 13-week scan. Costs are modestly testing. From these algorithms, eight distinct increased, but cost per prenatally detected scenarios were modeled to examine: (1) the case of DS is decreased current program (no cfDNA), (2) the current program with first trimester screening (FTS) as the nuchal translucency-based primary screen (no cfDNA), (3) a program substituting current screening with primary cfDNA, (4) contingent cfDNA with current FTS performance, (5) contingent cfDNA at a fixed price to result in overall cost neutrality,(6) contingent cfDNA with an improved detection rate (DR) of FTS, (7) contingent cfDNA with higher uptake of FTS, and (8) contingent cfDNA with optimized FTS (higher uptake and improved DR).
() analysis — Aim: To examine the cost and performance implications of introducing cell-free DNA (cfDNA) testing within modeled scenarios in a publicly funded Canadian provincial Down syndrome (DS) prenatal screening program. Setting: Canada Method: Two clinical algorithms were created: the to represent the current screening program and the second to represent one that incorporates cfDNA testing. From these algorithms, eight distinct scenarios were modeled to examine: (1) the current program (no cfDNA), (2) the current program with first trimester screening (FTS) as the nuchal translucency-based primary screen (no cfDNA), (3) a program substituting current screening with primary cfDNA, (4) contingent cfDNA with current FTS performance, (5) contingent cfDNA at a fixed price to result in overall cost neutrality,(6) contingent cfDNA with an improved detection rate (DR) of FTS, (7) contingent cfDNA with higher uptake of FTS, and (8) contingent cfDNA with optimized FTS (higher uptake and improved DR). This modeling study demonstrates that introducing contingent cfDNA testing improves performance by increasing the number of cases of trisomy 21 detected prenatally, and reducing the number of amniocenteses performed and concomitant iatrogenic pregnancy loss of pregnancies not affected by trisomy 21. Contingent models of cfDNA testing can improve overall screening performance while maintaining the provision of an 11- to 13-week scan. Costs are modestly increased, but cost per prenatally detected case of DS is decreased
cfDNA%20testing%20evidence%20evaluation%2016May17.docx