Age‐based differences in the predictive accuracy of a one‐size‐fits‐all risk‐cutoff value in prenatal integrated screening for Down syndrome

Abstract

Our findings indicate that the one-size-fits-all risk-cutoff value of 1/270, commonly used in DS screening, should be revisited and alternative (possibly age-based) cutoff values and strategies should be considered. © 2017 John Wiley & Sons, Ltd.

A comparison of first trimester prenatal screening strategies for Down Syndrome with maternal age and preferences considerations

“…The maximum cut‐offs allowed for contingent cfDNA to be considered effective compared to traditional testing vary by age group and parents' preferences regarding the adverse outcomes (Table 2). These results are in line with previous research that analyzed optimal cut‐offs for the integrated test (a type of test considered under traditional screening) with respect to maternal age and the weights that are given to the adverse outcomes 23,24 . Older age groups have slightly larger maximum cut‐offs, as DS risk is higher as age increases.…”

“…These results are in line with previous research that analyzed optimal cut-offs for the integrated test (a type of test considered under traditional screening) with respect to maternal age and the weights that are given to the adverse outcomes. 23,24 Older age groups have slightly larger maximum cut-offs, as DS risk is higher as age increases. When analyzing the preference of the expectant parents, those who consider DSLs to be less desirable than EPLs (DSL:EPL = 2:1) have smaller maximum cut-offs than the other two scenarios.…”

“…22,23 Previous research in cut-off selection for conventional testing has demonstrated that using dynamic cut-offs that consider the age of the mother and the preferences of the parents regarding the adverse outcomes, undetected DS live birth and diagnostic procedure-related fetal loss is more appropriate than using a one-size-fits-all cut-off. 23,24 Therefore, it is important to consider the age and preference-based cut-offs when evaluating the three screening strategies. To our knowledge, no study has focused on this aspect.…”

“…Parents who are more concerned about having an undetected DS birth might opt for a screening test that maximizes the DR. On the other hand, those who are more concerned about a procedure‐related loss might prefer a test which minimizes false positives 22,23 . Previous research in cut‐off selection for conventional testing has demonstrated that using dynamic cut‐offs that consider the age of the mother and the preferences of the parents regarding the adverse outcomes, undetected DS live birth and diagnostic procedure‐related fetal loss is more appropriate than using a one‐size‐fits‐all cut‐off 23,24 . Therefore, it is important to consider the age and preference‐based cut‐offs when evaluating the three screening strategies.…”