Silva S R, Bruner J P, Moore C A
Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, Tenn., USA.
Fetal Diagn Ther. 1999 May-Jun;14(3):149-51. doi: 10.1159/000020909.
Ebstein's anomaly is a rare congenital cardiac defect, characterized by the displacement of the tricuspid valve into the right ventricle, that occurs approximately once in 20,000 live births. The association of Ebstein's anomaly and chromosomal abnormalities, such as Down's syndrome, is extremely unusual. Prenatal diagnosis of trisomy 21 in a fetus with isolated Ebstein's anomaly has not been previously reported.
埃布斯坦畸形是一种罕见的先天性心脏缺陷，其特征是三尖瓣向右心室移位，在每20000例活产中大约出现1例。埃布斯坦畸形与染色体异常（如唐氏综合征）的关联极为罕见。此前尚未有孤立性埃布斯坦畸形胎儿中21三体综合征产前诊断的报道。
