dc.creator | García Jiménez, Rocío | es |
dc.creator | Valero, Irene | es |
dc.creator | Corrales-Gutiérrez, Isabel | es |
dc.creator | Granell, Reyes | es |
dc.creator | Borrero González, Carlota | es |
dc.creator | Sáinz Bueno, José Antonio | es |
dc.date.accessioned | 2023-09-26T12:42:18Z | |
dc.date.available | 2023-09-26T12:42:18Z | |
dc.date.issued | 2022 | |
dc.identifier.citation | García Jiménez, R., Valero, I., Corrales-Gutiérrez, I., Granell, R., Borrero González, C. y Sáinz Bueno, J.A. (2022). 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?. Biomedicines, 10 (10), 2579. https://doi.org/10.3390/biomedicines10102579. | |
dc.identifier.issn | 2227-9059 | es |
dc.identifier.uri | https://hdl.handle.net/11441/149148 | |
dc.description.abstract | 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. | es |
dc.format | application/pdf | es |
dc.format.extent | 7 p. | |
dc.language.iso | eng | es |
dc.publisher | MDPI | es |
dc.relation.ispartof | Biomedicines, 10 (10), 2579. | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | First trimester combined testing | es |
dc.subject | Contingent screening | es |
dc.subject | Aneuploidy | es |
dc.subject | Non invasive prenatal testing | es |
dc.subject | Trisomy 21 | es |
dc.subject | Trisomy 18 | es |
dc.subject | Trisomy 13 | es |
dc.subject | Cell free DNA | es |
dc.title | 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? | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Cirugía | es |
dc.relation.publisherversion | https://www.mdpi.com/2227-9059/10/10/2579 | es |
dc.identifier.doi | 10.3390/biomedicines10102579 | es |
dc.journaltitle | Biomedicines | es |
dc.publication.volumen | 10 | es |
dc.publication.issue | 10 | es |
dc.publication.initialPage | 2579 | es |