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Published on: August 17, 2022
First trimester contingent screening for trisomies 21,18,13: is this model cost efficient and feasible in public
Enrico Colosi1, Valentina D'Ambrosio2, Enrico Periti3
1a Center for Reproductive Medicine and BirthCare Program, Hospital Misericordia, Azienda USL Toscana Sud Est , Grosseto , Italy.
Purpose:
To evaluate the effectiveness of three different first trimester screening models for trisomies 21, 18 and 13, in terms of detection rate, invasive test rate and final costs.
Material And Methods:
We analyzed the distribution of risk for trisomies 21, 18 and 13 in a population of 20,831 singleton pregnancies based on maternal age, fetal heart rate, nuchal translucency, free beta human chorionic gonadotropin and pregnancy-associated plasma protein A (Combined test). On the basis of our data, we estimated the performance and cost of screening for trisomies using three different models at specific cutoffs: Combined test; Cell free DNA test and Contingent screening test.
Results:
Using Combined test, DR for major trisomies was estimated to be 94.92%, invasive test rate was 6.3%. cfDNA would result in a DR of 97.92%, with an invasive test rate of 3.64%. Contingent screening approach would result in an overall DR of 97.82, with a rate for invasive procedure of 1.36% and a final cost lower than other screening policies (2,338,433 euro vs 5,796,060 of cfDNA and 2,385,473 of Combined test).
Conclusions:
Contingent screening test could be a cost-efficient and feasible first trimester screening test for aneuploidies in public health system.
