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Serial sonographic findings of four fetuses with homozygous alpha‐thalassemia‐1 from 21 weeks onwards
Author(s) -
Leung W. C.,
Oepkes D.,
Seaward G.,
Ryan G.
Publication year - 2002
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.0960-7692.2001.00498.x
Subject(s) - medicine , fetus , middle cerebral artery , umbilical vein , thalassemia , obstetrics , alpha thalassemia , anemia , ductus venosus , blood flow , umbilical artery , pregnancy , cardiology , ischemia , biochemistry , chemistry , genetics , gene , genotype , in vitro , biology
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. Copyright © 2002 ISUOG