7q11.23重复综合征胎儿9例的产前超声表现及遗传学诊断

Prenatal ultrasonographic manifestations and genetic diagnosis of nine fetuses with 7q11.23 duplication syndrome

目的分析9例7q11.23重复综合征胎儿的产前超声表现及遗传学诊断结果。方法收集2017年1月至2021年12月在郑州大学第三附属医院产前诊断中心经染色体微阵列分析(CMA)技术确诊为7q11.23重复综合征的胎儿病例共计9例,回顾性分析其产前超声表现、妊娠结局及随访情况。结果9例7q11.23重复综合征胎儿中,5例为侧脑室增宽(其中4例为非孤立性侧脑室增宽,1例为孤立性侧脑室增宽),1例为室间隔缺损伴三尖瓣轻度反流,1例为心室强光点,另外2例未见异常。5例经家系验证考虑为新发变异,其余4例未进行验证。经遗传咨询,7名受试孕妇选择终止妊娠,2名胎儿足月娩出,随访至今生长发育均未见异常。结论该9例7q11.23重复综合征胎儿的产前超声表现多变,CMA技术可为其诊断与遗传咨询提供依据。

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.