Journal of Korean Society of Medical Ultrasound 2002;21(2): 141-144.
Prenatal Ultrasonography of Trisomy 18 with Radial Aplasia: A Case Report.
Jee Young Lee, Yeon Hee Lee
Department of Radiology, Dankook University of College of Medicine, Korea.
  Published online: June 1, 2002.
ABSTRACT
Trisomy 18 (Edward syndrome) is the second most common chromosomal anomaly of the autosomal trisomy. Prenatal diagnosis of trisomy 18 is extremely important because of the complex malformations and lethal prognosis. Prenatal sonographic findings at 17 weeks of gestation showing radial aplasia with upper limb contracture, omphalocele, and suspicious esophageal atresia suggested the diagnosis and led to amniocentesis. Karyotyping revealed trisomy 18(47 XX, +18), and characteristic autopsy findings were identified. We report a case of prenatally diagnosed trisomy 18 with a review of literatures.
Keywords: Fetus, abnormalities; Fetus, US
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