BMJ Case Rep. 2025 May 26;18(5):e257172. doi: 10.1136/bcr-2023-257172.
ABSTRACT
Severe fetal anaemia of unknown aetiology can present a diagnostic challenge. Rare causes of fetal anaemia include congenital sideroblastic anaemia (CSA), a rare group of disorders that typically manifest during infancy and early childhood. This case report describes three pregnancies complicated by CSA presenting antenatally in the same woman. The index case was a twin pregnancy in which both neonates were born severely anaemic with one surviving twin. The subsequent cases of severe fetal anaemia were detected during pregnancy and successfully managed with intrauterine blood transfusions (IUTs). The three surviving children required several neonatal transfusions and were later diagnosed with CSA. To our knowledge, this is the first case report describing CSA presenting in the antenatal period with surviving patients and thereby highlights the importance of considering fetal anaemia early in pregnancy and the potential for early intervention with IUTs to improve survival outcomes in this group of patients.
PMID:40425209 | DOI:10.1136/bcr-2023-257172
