Population contingent cfDNA screening implementation: increasing diagnostic accuracy and reducing invasive testing. 6 years results in a single center.

This study aimed to compare the results achieved in the University Hospital of Salamanca during the three years of contingent screening (2018-2020) with those of the previous three years (2015-2017) to assess the modification in the rate of trisomies detection and the number of invasive tests. Methods: A total of 9903 singleton pregnancies without malformations nor nuchal translucency>p99 were included. 5165 patients underwent combined screening and 4738 had contingent screening based on the combined test risk. In the combined test group, women were offered an invasive test if the risk was ≥1:270 whilst risks under 1:270 were considered low risks, and no further testing was offered. In the contingent screening group, invasive testing was offered if the risk was ≥1:100 (≥1:50 from 2020 onwards) whilst cfDNA was offered if the combined test risk was between 1:100 to 1:1000 (1:50-1 :1000 from 2020 onwards). When risk was
Source: Fetal Diagnosis and Therapy - Category: Perinatology & Neonatology Source Type: research