Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature

Prenat Diagn. 2016 Dec;36(13):1242-1249. doi: 10.1002/pd.4966. Epub 2016 Dec 7.


Objective: Alpha thalassemia major (ATM) is often fatal in utero due to severe hydrops fetalis. Although in utero transfusions (IUTs) are increasingly used to allow fetal survival in ATM, prenatal and postnatal outcomes are not well described.

Methods: We retrospectively reviewed cases of ATM at our institution treated with consecutive IUT. Clinical records were reviewed for transfusion history, neurodevelopmental outcomes, anatomic abnormalities, survival to hematopoietic cell transplantation, and transfusion independence. A systematic review was performed, and additional reported cases are discussed.

Results: Three patients who underwent IUT for ATM were identified, and review of the literature revealed 17 reported cases. Of patients who received IUT, reported neurodevelopmental deficits occurred in 29% (4/14) and anatomic abnormalities in 55% (11/20). Four patients eventually underwent successful hematopoietic cell transplantation. Transfusion volumes were less than suggested guidelines for other causes of fetal anemia in 91.7% of the transfusions.

Conclusion: This series demonstrates the potential for achieving full fetal development with normal neurologic outcomes in those affected by ATM. It provides support for continued patient and provider education about current benefits and risks of active prenatal therapy for fetuses with ATM, as well as continued research to optimize therapeutic strategies such as in utero transplantation. © 2016 John Wiley & Sons, Ltd.

Publication types

  • Case Reports
  • Review
  • Systematic Review

MeSH terms

  • Blood Transfusion, Intrauterine* / adverse effects
  • Blood Transfusion, Intrauterine* / methods
  • Female
  • Fetal Development
  • Fetal Diseases / therapy*
  • Follow-Up Studies
  • Gestational Age
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Hydrops Fetalis / etiology
  • Male
  • Neurodevelopmental Disorders / epidemiology
  • Neurodevelopmental Disorders / etiology
  • Pregnancy
  • Pregnancy Outcome
  • Treatment Outcome*
  • alpha-Thalassemia / complications
  • alpha-Thalassemia / embryology*
  • alpha-Thalassemia / therapy*