臨床症例報告ジャーナル

Report of One Case with Congenital Vascular Ring

Abstract

Ying Xu, Biliang Chen, Yu Li, Tingting Song, Fenfen Guo, Xu hui, Yan Feng and Jianfang Zhang

Congenital vascular rings is an unusual congenital condition and severely affects the survival and life quality of the patients. A 23-year-old gravid woman was referred for counseling at 24 weeks of gestation because of abnormal ultrasound findings of fetal congenital vascular ring. Fetal echocardiography showed a complete vascular ring with a right aortic arch (RAA), left ductus arteriosus (LDA) and left intracardia echogenicfocus. Conventional cytogenetic analysis revealed an apparent balanced reciprocal translocation between the distal segment of the long arm of a chromosome 5 and the long arm of chromosome 2: 46, XY, t (2;5) (q3.5; q31.1). This abnormal karyotype was detected in gravid woman. However, the microarray analysis on amniocytes using HumanCytoSNP-12 array detected 2.57-Mb deletion at 22q11.21. Metaphase fluorescence in situ hybridization (FISH) analysis on cultured amniocytes confirmed an interstitial 22q11.2 deletion. The fetus was died owing to breathing and feeding difficulties. Our study highlights the clinical value of genetic detection and prenatal diagnosis of Congenital vascular rings by karyotype analysis coupled with SNP array.