Publication: Evolución de los criterios de selección de gestantes en riesgo de cromosomopatía fetal: papel de la edad materna
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2017-09-06
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Universidad Complutense de Madrid
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Abstract
El asesoramiento genético, en asociación con los procedimientos de diagnóstico prenatal, constituye un elemento básico para la identificación de anomalías congénitas y trastornos genéticos, facilitando a la pareja una adecuada información, mediante Consejo Genético, que les permita tomar decisiones informadas respecto a la gestación. El estudio citogenético fetal se conoce como una metodología fiable y resolutiva en circunstancias de riesgo para cromosomopatía. El método invasivo, utilizado de manera universal para la obtención de una muestra fetal, es la amniocentesis. Desde la implementación de esta disciplina, a mediados de los años 80, los criterios para la selección de gestantes en riesgo de alteración cromosómica fetal han sufrido múltiples variaciones, siempre encaminadas a optimizar el coste-beneficio de la prueba invasiva, y a obtener la máxima sensibilidad. Las metodologías utilizadas para realizar estudios citogenéticos prenatales se han ido perfeccionando mediante la inclusión de nuevas técnicas que permiten caracterizar las anomalías cromosómicas con mayor exactitud y ofrecer un Consejo Genético correcto. Dentro de los criterios de selección de embarazadas en riesgo de cromosomopatía, la edad materna avanzada (≥ 35 años) ha sido la indicación con mayor prevalencia para realizar estos análisis a pesar de presentar una baja sensibilidad. Actualmente, la edad de la madre está incluida en el método de Cribado combinado de 1er trimestre para trisomía 21 y trisomía 18, lo que ha hecho disminuir considerablemente las amniocentesis por edad materna avanzada como criterio aislado...
The genetic counselling, together with prenatal diagnosis procedures, constitutes a basic element for the identification of genetic abnormalities and pathologies, thus facilitating adequate information to the parents, through genetic advice, in order to make appropriate decisions regarding gestation. The fetal cytogenetic study is recognized as a suitable, reliable and operative methodology for chromosomepathy risk assessment. The invasive method used in a generalized manner to obtain fetal samples is the amniocentesis. Since the implementation of this approach during mid 80s, the criteria to select those pregnancies under chromosomal alteration risk have underwent multiple variations, always towards the optimization of the costbenefit of this invasive test and to provide the highest sensitivity. Accordingly, the methodologies used for prenatal cytogenetic have been improved in order to obtain a better characterization of chromosomal abnormalities to support an accurate Genetic Counseling. Among the selection criteria for chromosomopathy risk, the advanced maternal age (≥ 35 years) has been the highest prevalent indication for these analyses, in spite of a low sensitivity. At present, the maternal age is included into the first trimester combined screening procedure for the chromosome 21 and 18 trisomies, allowing to a significant reduction of the amniocentesis numbers due only to maternal age...
The genetic counselling, together with prenatal diagnosis procedures, constitutes a basic element for the identification of genetic abnormalities and pathologies, thus facilitating adequate information to the parents, through genetic advice, in order to make appropriate decisions regarding gestation. The fetal cytogenetic study is recognized as a suitable, reliable and operative methodology for chromosomepathy risk assessment. The invasive method used in a generalized manner to obtain fetal samples is the amniocentesis. Since the implementation of this approach during mid 80s, the criteria to select those pregnancies under chromosomal alteration risk have underwent multiple variations, always towards the optimization of the costbenefit of this invasive test and to provide the highest sensitivity. Accordingly, the methodologies used for prenatal cytogenetic have been improved in order to obtain a better characterization of chromosomal abnormalities to support an accurate Genetic Counseling. Among the selection criteria for chromosomopathy risk, the advanced maternal age (≥ 35 years) has been the highest prevalent indication for these analyses, in spite of a low sensitivity. At present, the maternal age is included into the first trimester combined screening procedure for the chromosome 21 and 18 trisomies, allowing to a significant reduction of the amniocentesis numbers due only to maternal age...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Bioquímica y Biología Molecular, leída el 08-02-2016