Prenatal two- and three-dimensional ultrasound diagnosis of limb reduction defects associated with homozygous alpha-thalassemia.
OBJECTIVE
We present the prenatal two-dimensional (2D-) and three-dimensional ultrasound (3D-US) diagnosis of limb reduction defects associated with homozygous alpha-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 alpha-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.
Chen
Chih-Ping
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, and Institute of Clinical Nursing, School of Nursing, National Yang-Ming University, Taipei, Taiwan, ROC. cpc_mmh@yahoo.com
Chang
Tung-Yao
TY
Su
Yi-Ning
YN
Hsu
Chin-Yuan
CY
Wang
Wayseen
W
D000328:Adult; D005260:Female; D006720:Homozygote; D006801:Humans; D021621:Imaging, Three-Dimensional; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D017085:alpha-Thalassemia / Q000235:genetics*