A fetus at risk for α-thalassemia presented with cardiomegaly without evidence of anemia. Invasive testing demonstrated the diagnosis of homozygous α-thalassemia-1 with a normal-range hemoglobin (Hb) level. We suggest that in the prenatal detection of homozygous α-thalassemia-1 by sonography, the diagnosis should always be confirmed with definitive methods such as fetal cord blood Hb analyses. This is important for genetic counseling and treatment for the affected fetus.

Keywords:
Cardiomegaly, Fetal anemia, α-Thalassemia, Ultrasound
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© 2010 S. Karger AG, Basel
2010
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