| dc.contributor | Yunis Londoño, Juan José | |
| dc.contributor | Yunis Hazbun, Luz Karime | |
| dc.contributor | Patología Molecular | |
| dc.creator | Grajales Ospina, Diana Carolina | |
| dc.date.accessioned | 2021-02-18T15:00:37Z | |
| dc.date.available | 2021-02-18T15:00:37Z | |
| dc.date.created | 2021-02-18T15:00:37Z | |
| dc.date.issued | 2020 | |
| dc.identifier | https://repositorio.unal.edu.co/handle/unal/79270 | |
| dc.description.abstract | Objective: To evaluate the concordance of a non-invasive prenatal test (NIPT) against invasive prenatal tests (karyotype) in a pilot sample of high-risk fetal aneuploidy pregnancies. Materials and methods: Pilot study in 15 patients classified as high risk of aneuploidies, each underwent confirmatory invasive test, NIPT and standard screening test. Results: Three out of 15 pregnancies had aneuploidies detected by invasive cytogenetic study, which corresponded to: a trisomy 21, a trisomy 18 and a monosomy X. There were no abnormal findings in the other pregnancies. The kappa index between NIPT and karyotype was 0.75. NIPT detected 66% of aneuploidies. Conclusion: This is the first study that compares NIPT and confirmatory tests carried out in patients at high risk for aneuploidy in Colombia. We found that NIPT has a good overall operational performance (0.75) for the detection of aneuploidies in the pilot sample. However, a larger sample is required to support these findings. | |
| dc.description.abstract | Objetivo: Evaluar la concordancia de una prueba prenatal no invasiva (NIPT) contra pruebas prenatales invasivas (cariotipo) en una muestra piloto de embarazos de alto riesgo de aneuploidías fetales. Materiales y métodos: Estudio piloto en 15 pacientes clasificadas con alto riesgo de aneuploidías, a cada una se le realizó prueba invasiva confirmatoria, NIPT y prueba de tamización estándar. Resultados: 3 de las 15 gestaciones presentaron aneuploidías detectadas por estudio citogenético invasivo, las cuáles correspondían a: una trisomía 21, una trisomía 18 y una monosomía X. No hubo hallazgos anormales en las gestaciones restantes. El índice kappa entre NIPT y cariotipo fue de 0,75. La prueba NIPT detectó 66% de las aneuploidías. Conclusión: Este es el primer estudio de comparación entre pruebas NIPT y pruebas confirmatorias realizado en pacientes de alto riesgo para aneuploidía en Colombia, encontrando que la prueba NIPT tiene un buen rendimiento operativo global (0,75) para la detección de las aneuploidías en la muestra piloto. Sin embargo se requiere una mayor muestra para soportar estos hallazgos. | |
| dc.language | spa | |
| dc.publisher | Bogotá - Medicina - Maestría en Genética Humana | |
| dc.publisher | Universidad Nacional de Colombia - Sede Bogotá | |
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| dc.rights | Atribución-NoComercial-SinDerivadas 4.0 Internacional | |
| dc.rights | Acceso abierto | |
| dc.rights | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.rights | Derechos reservados - Universidad Nacional de Colombia | |
| dc.title | Análisis de concordancia de pruebas no invasivas prenatales en sangre materna (NIPT) con pruebas invasivas para embarazos con alto riesgo de aneuploidías fetales en una muestra piloto | |
| dc.type | Otro | |
