alexa Serial sonographic findings of four fetuses with homozygous alpha-thalassemia-1 from 21 weeks onwards.
Genetics & Molecular Biology

Genetics & Molecular Biology

Hereditary Genetics: Current Research

Author(s): Leung WC, Oepkes D, Seaward G, Ryan G

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Abstract OBJECTIVES: To evaluate the potential usefulness of noninvasive ultrasound assessment of fetal anemia in the diagnosis and management of fetuses with homozygous alpha-thalassemia-1. METHODS: We describe four pregnancies complicated by fetal homozygous alpha-thalassemia-1. They presented with ultrasound abnormalities before the development of hydrops. As part of evaluating the fetal condition, we performed ultrasound and Doppler studies aimed at identifying fetal anemia. These studies included evaluation of intrahepatic umbilical venous maximum flow velocity, middle cerebral artery peak flow velocity, fetal liver length and spleen perimeter. RESULTS: In all four fetuses, ultrasound and Doppler studies suggested the presence of fetal anemia. Homozygous alpha-thalassemia-1 was diagnosed in all cases, with fetal blood sampling confirming anemia in three fetuses. The majority of the intrahepatic umbilical venous maximum flow velocity and middle cerebral artery peak flow velocity measurements were above the 95th centile. Two fetuses underwent intrauterine transfusion and fetal blood flow velocities returned to normal after correction of the fetal anemia. The fetal liver length and spleen perimeter measurements showed a similar trend, although they were less consistent before 28 weeks. CONCLUSION: Non-invasive ultrasound parameters, in particular quantification of intrahepatic umbilical venous maximum flow velocity and middle cerebral artery peak flow velocity, were found to be useful in the diagnosis and management of fetal anemia in pregnancies with fetal homozygous alpha-thalassemia-1. This article was published in Ultrasound Obstet Gynecol and referenced in Hereditary Genetics: Current Research

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