March 3, 2026Open Access

Hereditary Anemias as a Monogenic Etiology for Nonimmune Hydrops Fetalis

Puntos clave

Diagnosis confirmed hereditary anemia in 2.4% of nonimmune hydrops fetalis cases.
Of the 207 cases analyzed, 5 cases were linked to hereditary anemias.
Assessment using exome sequencing in fetuses with suspected anemia and elevated MCA Dopplers was utilized.
The findings suggest hereditary anemias should be prioritized in genetic testing for NIHF cases.

Resumen

Overall, ES confirmed the etiology of hereditary anemia in 2.4% (5/207) of genetically diagnosed NIHF cases. Hereditary anemias, therefore, represent a distinct and clinically relevant subset of ES-diagnosed NIHF cases. ES should be considered first line in fetuses with NIHF, as common non-genetic causes such as fetomaternal hemorrhage, infectious etiologies, and alloimmunization are excluded. It is also indicated when fetal anemia is suspected, particularly in the setting of elevated MCA Dopplers with a negative evaluation for common hemoglobinopathies and nongenetic etiologies.

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Cite This Study

Makhamreh et al. (Sun,) studied this question.

synapsesocial.com/papers/69a760d3c6e9836116a2df1e https://doi.org/https://doi.org/10.1016/j.clinthera.2026.01.002

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