RCOG World Congress 2025

Prenatal Sonographic Clues to Congenital Autosomal Recessive Sideroblastic Anemia: A Rare Diagnosis

(Muneeba Sohail, Tehreem, F.Saeed, K.Khanum, G. Zainab, A.Malik)

Background:

A primigravida presents in third trimester with an ultrasound diagnosis of fetal ascites

Further evaluation, including genetic testing, revealed autosomal recessive pyridoxine-resistant congenital sideroblastic anemia due to SLC25A38 mutation

Fetal ascites without alloimmunization on prenatal ultrasound should prompt evaluation for congenital anemia, including sideroblastic anemia.

Less than 10% among congenital sideroblastic anemia.

Case- Report:

A 26-year-old healthy primigravida was referred at 29 weeks for moderate fetal ascites. Detailed ultrasound revealed fetal hydrops, cardiomegaly, shortened long bones, and placental thickening. Fetal echocardiography showed dilated right heart chambers, enlarged pulmonary arteries, and pericardial effusion.

Whole exome sequencing (CVS at 30 weeks) confirmed autosomal recessive, pyridoxine-refractory congenital sideroblastic anemia due to SLC25A38 mutation.

A preterm male infant (2.4 kg) was delivered at 34+4 weeks with hydropic features, hypospadias, and anemia (Hb 8 mg/dL). Despite transfusions, anemia persisted; peripheral smear showed Pappenheimer bodies.

A detailed counselling of parents regarding disease, prognosis and treatment options was done by genetist, neonatologist and hematologist

Conclusion:

Congenital Autosomal recessive sideroblastic anemia may present as fetal ascites in the third trimester. Such cases require close follow-up, antenatal invasive testing if parents wish to know the genetic cause, and liaison with a geneticist and pediatric hematologist

RCOG World Congress 2025

Prenatal Sonographic Clues to Congenital Autosomal Recessive Sideroblastic Anemia: A Rare Diagnosis

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