Consejería genética y diagnóstico prenatal: recomendaciones y futuras perspectivas para Colombia

Revista Facultad de Ciencias de la Salud UDES

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Title Consejería genética y diagnóstico prenatal: recomendaciones y futuras perspectivas para Colombia
 
Creator Vallejo-Ardila, Dora Lucía
 
Subject Anomalías congénitas; asesoramiento genético; diagnóstico prenatal; genética; pruebas genéticas. (Fuente: DeCS BIREME)
 
Description Introducción: En el ámbito mundial la prevalencia de malformaciones congénitas en recién nacidos oscila entre 3 al 5%; en Colombia en 2007, se convirtió por primera vez en la causa más frecuente de mortalidad infantil. El objetivo de esta revisión de la literatura es describir la importancia de implementar protocolos diagnósticos y de consejería genética prenatal en Colombia. Metodología: Se realizó la búsqueda de la literatura en las bases de datos MEDLINE/PubMed, OVID, SciELO, Sciencedirect y ProQuest, utilizando términos MeSH como: “genetic counselling and congenital anomalies”, “prenatal diagnosis”, “genetic services”, “ECLAMC” y “Genetics in Latin America” para delimitar la búsqueda de artículos de revisión, y estudios descriptivos observacionales, que permitieran hacer un seguimiento detallado sobre los avances realizados los últimos diez años sobre consejería genética y diagnóstico prenatal en Colombia. Resultados: Es necesario implementar el uso racional de algoritmos diagnósticos y un mejor plan de control prenatal por parte del personal médico considerando la importancia de indagar por antecedentes de exposición a agentes teratogénicos, antecedente familiares positivos para malformaciones congénitas y estimar el riesgo de recurrencia, para lograr remitir al especialista de manera oportuna y éste pueda realizar su intervención precoz. Conclusiones: El diagnóstico prenatal implica correlacionar hallazgos ultrasonográficos con marcadores séricos para evaluar la necesidad de pruebas invasivas según la priorización del riesgo de anomalías congénitas. Esto debe hacerse en coordinación con un servicio multidisciplinario de  consejería genética que incluya: neonatología, perinatología, pediatría, ginecología, obstetricia, psiquiatría, trabajo social y  psicología. 
 
Publisher Universidad de Santander (UDES)
 
Contributor
 
Date 2014-12-30
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Review Article

 
Format application/pdf
 
Identifier https://journalhealthsciences.com/index.php/UDES/article/view/20
10.20320/rfcsudes.v1i2.224
 
Source Revista Facultad de Ciencias de la Salud UDES; Vol. 1, Núm. 2 (2014); 125-131
Revista Facultad de Ciencias de la Salud UDES; Vol. 1, Núm. 2 (2014); 125-131
2422-1074
2422-1074
 
Language spa
 
Relation https://journalhealthsciences.com/index.php/UDES/article/view/20/18
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