Prenatal diagnosis and management of homozygous hemoglobin constant spring disease.

OBJECTIVE

To describe fetal management of homozygous hemoglobin constant spring (Hb CS).

METHODS

Six fetuses with homozygous Hb CS disease undergoing intrauterine transfusion (IUT) were comprehensively reviewed. Additionally, when combined with 8 cases previously reported, a total of 14 cases were analyzed.

RESULTS

The first clues of diagnosis were hydropic changes suggesting fetal anemia. Increased cardiothoracic diameter ratio (CTR) was the most sensitive sonographic marker but slowly changed after IUT, whereas MCA-PSV was the most sensitive in response to IUT. Pre-IUT Hb varied from 1.1% to 6.8%. Gestational age at diagnosis was 17-29 (22.8 ± 3.3) weeks. Rates of adverse obstetric outcomes were relatively high; preterm birth: 35.7%, low birthweight: 42.9%, and fetal growth restriction: 28.6%. All showed good response to IUT with disappearance of hydropic signs and all survived without short-term complications. Their anemia gradually improved in childhood and transfusion independent.

CONCLUSION

Homozygous Hb CS can cause severe fetal anemia. Early diagnosis and IUT can improve neonatal outcomes, probably preventing adult diseases caused by fetal programming.