Fetal Diagnosis and Therapy
Prenatal Two- and Three-Dimensional Ultrasound Diagnosis of Limb Reduction Defects Associated with Homozygous α-ThalassemiaChen C.-P.a-d · Chang T.-Y.a · Su Y.-N.e · Hsu C.-Y.a · Wang W.bDepartments of aObstetrics and Gynecology and bMedical Research, Mackay Memorial Hospital, Taipei, cInstitute of Clinical Nursing, School of Nursing, National Yang-Ming University, Taipei, dCollege of Chinese Medicine, China Medical University, Taichung, and eDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan (ROC)
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Article / Publication Details
Received: May 04, 2005
Accepted: September 05, 2005
Published online: June 06, 2006
Issue release date: June 2006
Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 1
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
Abstract
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.
© 2006 S. Karger AG, Basel
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Article / Publication Details
Received: May 04, 2005
Accepted: September 05, 2005
Published online: June 06, 2006
Issue release date: June 2006
Number of Print Pages: 6
Number of Figures: 3
Number of Tables: 1
ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)
For additional information: https://www.karger.com/FDT
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