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Federación Mexicana de Ginecología y Obstetricia, A.C.

2015, Número 04

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Ginecol Obstet Mex 2015; 83 (04)


Implementación clínica del estudio prenatal no invasivo para la detección de aneuplodías mediante ADN fetal con base en polimorfismos de nucleótido único: dos años en México

Sánchez-Usabiaga RA, Aguinaga-Ríos M, Batista-Espinoza A, Hurtado-Amador R, Romero-Tovar S

Idioma: Español
Referencias bibliográficas: 45
Paginas: 220-231
Archivo PDF: 403.66 Kb.


RESUMEN

Antecedentes: los datos recientes demuestran que el estudio prenatal no invasivo para la detección de aneuploidías fetales (cromosomas 13, 18, 21, X, Y, y triploidías) mediante ADN fetal libre en sangre materna es una realidad clínica, con tasas de detección mayores de 99% y de falsos positivos de 0.1%, resultados que superan al tamiz combinado del primer trimestre.
Objetivo: reportar la experiencia acumulada en los primeros dos años de haber integrado el estudio prenatal no invasivo mediante ADN fetal libre en sangre materna en su variante de polimorfismo de nucleótido único (SNPs) como método de tamiz para la detección de aneuplodías comunes, a partir de la semana 9 de la gestación.
Pacientes y métodos: estudio observacional prospectivo realizado de marzo de 2013 a febrero de 2015. Se incluyeron mujeres con embarazo único a quienes se ofreció tamiz combinado del primer trimestre para aneuploidías fetales o la nueva alternativa del estudio prenatal no invasivo-polimorfismo de nucleótido único.
Resultados: se incluyeron 270 mujeres, con media de edad de 35.3 años y 11.85 semanas de gestación. El resultado se obtuvo en 98.5% en un tiempo promedio de 7.5 días hábiles. En 15 pacientes se repitió la toma de sangre y en 11 el resultado fue definitivo. El estudio prenatal no invasivo-polimorfismo de nucleótido único resultó positivo en 10 casos, 8 para trisomía 21, uno para trisomía 18 y el restante para trisomía 13.
Conclusiones: se describió la experiencia de los primeros dos años de haber integrado el estudio prenatal no invasivo-polimorfismo de nucleótido único a la práctica obstétrica, que es una alternativa de tamiz con el potencial de ser incorporado a los algoritmos actuales de atención prenatal, a partir de la novena semana de gestación. Se espera que esta información motive a un debate en el tema de tamiz prenatal y se llegue a mejorar la atención obstétrica y el asesoramiento genético en México.


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