RT Journal Article
T1 Does a High-Risk (>1/50) Result for First-Trimester Combined Screening Always Entail Invasive Testing? Which Patients from This Group Might Benefit from cfDNA Testing?
A1 García-Jiménez, Rocío
A1 Valero, Irene
A1 Corrales-Gutiérrez, Isabel
A1 Granell, Reyes
A1 Borrero, Carlota
A1 Sainz-Bueno, José Antonio
K1 aneuploidy
K1 cell-free DNA
K1 contingent screening
K1 first-trimester combined testing
K1 non-invasive prenatal testing
K1 trisomy 13
K1 trisomy 18
K1 trisomy 21
AB Currently, cell-free DNA (cfDNA) is offered as part of a contingent screening for patients with a first-trimester combined test (FCT) risk between 1/50 and 1/250. However, most aneuploidies are within the group of patients with a risk above 1/10. An observational, retrospective, and multi-centric study was carried out, to evaluate the theorical performance of lowering the cut-off point for the high-risk group from 1/50 to 1/10. Out of the 25,920 patients included, 25,374 (97.9%) consented to the cfDNA contingent screening for aneuploidies. With the proposed strategy, knowing that the detection rate (DR) of cfDNA testing for trisomy 21 is 99.7%, the DR for trisomy 21 would have stayed in a 93.2%, just as it was with the current strategy. In this instance, 267 (1.1%) invasive tests would have been performed, while the current strategy had a total of 307 (1.2%). The false positive rate (FPR) rate would have stayed at 5.2% in both scenarios. In conclusion, the contingent screening of aneuploidies based in the result of the FCT, offering the analysis of cfDNA to patients with an intermediate risk after lowering the cut-off point from 1/50 to 1/10, is a valid alternative that might maintain the current detection rates and avoid the complications associated with invasive testing.
SN 2227-9059
YR 2022
FD 2022-10-14
LK http://hdl.handle.net/10668/20847
UL http://hdl.handle.net/10668/20847
LA en
DS RISalud
RD Apr 20, 2025