Objectives: We present the prenatal two-dimensional (2D-) and three-dimensional ultrasound (3D-US) diagnosis of limb reduction defects associated with homozygous α-thalassemia and a review of the literature. Methods: At 17 weeks’ gestation, amniocentesis was performed for cytogenetic and molecular studies, and 2D- and 3D-US examinations were made for evaluation of the fetal malformations. Results: Amniocentesis revealed a 46,XY karyotype and molecular analysis of the amniocytes showed that the fetus was homozygous for the Southeast Asian deletion (– –SEA/– –SEA). 2D-US examination revealed bilateral ventriculomegaly, brachycephaly, pleural effusion, digital deficiency and hypoplasia of the right foot, and digital deficiency of the left foot. 3D-US confirmed the distal limb reduction defects. Conclusions: When the fetus is at risk for homozygous α-thalassemia, 2D- and 3D-US examinations are useful for prenatal detection of the associated limb reduction defects. Prenatal identification of the possible association with limb reduction defects is important for parental counseling and decision-making when intrauterine fetal therapy is an option.

Keywords:
α-Thalassemia, α-Thalassemia, prenatal diagnosis, Limb reduction defects, Two-dimensional ultrasound, Three-dimensional ultrasound
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© 2006 S. Karger AG, Basel
2006
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