Hereditary Anemias as a Monogenic Etiology for Nonimmune Hydrops Fetalis
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.
Authors
- Rodney Anthony McLaren (ORCID: https://orcid.org/0000-0002-5013-3456)
- Stephanie M. Rice (ORCID: https://orcid.org/0000-0002-7323-7629)
- Huda B. Al‐Kouatly (ORCID: https://orcid.org/0000-0003-2922-0333)
- Casey Brewer (ORCID: https://orcid.org/0000-0002-1717-7967)
- Kavya Shivashankar (ORCID: https://orcid.org/0000-0002-2189-3771)
- Mona M. Makhamreh
- Seth I. Berger
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- Children's National (US)
- Thomas Jefferson University (US)
- University of Illinois Urbana-Champaign (US)
- Illinois College (US)
- Baylor College of Medicine (US)
- University of Illinois Chicago (US)
- Ambry Genetics (United States) (US)
Publication Details
- Journal
- Clinical Therapeutics
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1016/j.clinthera.2026.01.002
- Primary Topic
- Blood groups and transfusion
- Type
- article
- Field-Weighted Citation Impact
- 0.00