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La detección de recién nacidos: avances, desafíos y direcciones futuras
Yishay Ben-Moshe1, V Reid Sutton1
1Department of Molecular & Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
Clinics in perinatology
|August 24, 2025
Resumen
El cribado del recién nacido (NBS) detecta enfermedades raras del recién nacido temprano. Este programa de salud pública enfrenta desafíos como las disparidades de acceso y las preocupaciones éticas, pero sigue siendo vital para la intervención temprana.
Área de la Ciencia:
- Salud pública
- La genética
- Pediatría
Sus antecedentes:
- La detección de recién nacidos (NBS) es una iniciativa de salud pública crucial en los EE.
- Su objetivo es la detección temprana y el tratamiento de trastornos congénitos raros y tratables.
- El programa detecta enfermedades metabólicas, endocrinas y hematológicas, entre otras.
Objetivo del estudio:
- Proporcionar una visión global de la historia y la evolución de NBS.
- Discutir el estado actual de la NBS, incluidos los métodos, la interpretación y las controversias.
- Explorar las direcciones futuras, en particular la detección genómica en el NBS.
Principales métodos:
- Revisión de la literatura sobre la historia, los hitos y la evolución del NBS.
- Análisis de los métodos de laboratorio actuales y de las normas de interpretación clínica.
- Discusión de los desafíos persistentes y las tendencias futuras en NBS.
Principales resultados:
- El NBS ha evolucionado significativamente, incorporando técnicas avanzadas de laboratorio.
- El programa es rentable y salva vidas, pero enfrenta desafíos.
- Los desafíos clave incluyen disparidades de acceso, consideraciones éticas y complejidad de diagnóstico.
Conclusiones:
- El NBS es una piedra angular de la salud pública pediátrica, lo que permite una intervención temprana.
- Abordar las disparidades y las cuestiones éticas es crucial para la equidad del programa.
- El cribado genómico representa una trayectoria futura prometedora para el NBS.
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