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Apariciones engañosas: Infecciones congénitas que simulan síndromes genéticos en la patología fetal

Mishu Mangla¹, Seetu Palo²

¹Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Bibinagar, Hyderabad.

Journal of neonatal-perinatal medicine

|August 29, 2025

Resumen

Las infecciones congénitas y los síndromes genéticos pueden presentar anomalías fetales similares, complicando el diagnóstico. La identificación precisa requiere enfoques integrados, combinando datos clínicos, placentarios y moleculares para evitar un diagnóstico erróneo.

Área de la Ciencia:

La genética médica
Enfermedades infecciosas
Patología fetal

Sus antecedentes:

Las infecciones transplacentarias (por ejemplo, citomegalovirus, Zika, toxoplasmosis, rubéola) son causas conocidas de anomalías congénitas.
La superposición fenotípica entre las infecciones y los síndromes genéticos presenta desafíos de diagnóstico en la autopsia fetal y el asesoramiento prenatal.

Objetivo del estudio:

Revisar las similitudes clínicas y patológicas entre las infecciones congénitas y los síndromes genéticos.
Para resaltar las trampas de diagnóstico en la autopsia fetal.
Hacer hincapié en la importancia de los enfoques de diagnóstico integrados.

Principales métodos:

Revisión exhaustiva de la literatura sobre infecciones congénitas, autopsia fetal y diagnóstico diferencial con síndromes genéticos.

Principales resultados:

Varias infecciones transplacentarias imitan síndromes genéticos con características como microcefalia, calcificaciones intracraneales, anomalías cardíacas y hidrops fetalis.
La patología placentaria, la serología materna y las pruebas moleculares son cruciales para la delineación etiológica.

Conclusiones:

El conocimiento de las características superpuestas es vital para evitar el diagnóstico erróneo de anomalías congénitas.
Un enfoque multidisciplinario (clínico, histopatológico, molecular) es esencial para el diagnóstico preciso, el asesoramiento sobre el riesgo de recurrencia y el manejo futuro del embarazo.

Palabras clave:

La antorcha El virus del Zika Anomalías congénitas El citomegalovirus autopsia del feto Síndromes genéticos el mimetismo Patología placentaria Infecciones transplacentarias

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