Prenatal ultrasonographic manifestations and genetic diagnosis of nine fetuses with 7q11.23 duplication syndrome
10.3760/cma.j.cn511374-20221117-00795
- VernacularTitle:7q11.23重复综合征胎儿9例的产前超声表现及遗传学诊断
- Author:
Pengyun LI
1
;
Jing GUO
;
Jia CHE
;
Fangying CUI
;
Yuexia LYU
;
Hua ZHANG
;
Ying LI
;
Ling LIU
Author Information
1. 郑州大学第三附属医院产前诊断中心，郑州 450052
- Keywords:
Prenatal diagnosis;
7q11.23 duplication syndrome;
Chromosomal microarray analysis;
Genetic diagnosis
- From:
Chinese Journal of Medical Genetics
2024;41(3):266-270
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze ultrasonographic manifestations and genetic etiology of nine fetuses with 7q11.23 duplication syndrome.Methods:Ultrasonographic finding, pregnancy outcome and follow-up of nine fetuses detected at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2021 were retrospectively analyzed.Results:The fetuses were found to harbor a duplication in the 7q11.23 region by chromosomal microarray analysis (CMA). Among these, five had shown ventriculomegaly, including four syndromic and one non-syndromic. For the remainders, one had ventricular septal defect and mild tricuspid regurgitation, one had echogenic intracardiac focus, whilst another two were normal. Five couples had accepted parental verification, and the results confirmed that the 7q11.23 duplication carried by their fetuses were de novo in origin. Following genetic counseling, seven couples had opted to terminate their pregnancies. Two fetuses were delivered at full term, and follow-up had found no abnormalities. Conclusion:Prenatal ultrasonographic manifestations of fetuses with 7q11.23 duplication syndrome are variable. CMA can provide assistance for their diagnosis and genetic counseling.
