17q12复发性微重复综合征产前超声特点和遗传学分析

Prenatal ultrasonography findings and genetic analysis of 17q12 microduplication syndrome

目的:分析6例17q12复发性微重复综合征胎儿的产前超声表现及染色体微阵列(CMA)检测结果。方法:2018年1月至2019年12月于郑州大学第三附属医院行CMA检测的孕妇7337例,检出6例(0.08%)17q12复发性微重复综合征,分析6例胎儿的产前超声表现和CMA检测结果。结果:6例胎儿中,最常见的超声表现是十二指肠梗阻(4/6),1例肾脏异常,1例胎儿发育小于同孕周。亲代验证结果显示:1例为新发突变,4例遗传自表型正常的父母,1例未行CMA检测。经遗传咨询,2例孕妇选择终止妊娠,3例出生后进行手术治疗,1例失访。结论:十二指肠梗阻有可能是17q12复发性微重复综合征产前超声特征表现之一。

Aim:To explore the prenatal ultrasound findings and the results of chromosome microarray(CMA)detection of 6 fetuses with 17q12 microduplication syndrome.Methods:From January 2018 to December 2019,a total of 7337 pregnant women who underwent prenatal CMA testing in the Third Affiliated Hospital of Zhengzhou University were collected,and 6 fetuses(0.08%)were determined as 17q12 microduplication.The prenatal ultrasonography of these 6 fetuses was analyzed combination with the CMA results.Results:Among the 6 fetuses with 17q12 microduplication,the most common ultrasonography were duodenal obstruction(4/6),followed by renal abnormality(1 case)and fetal development less than the same gestational age(1 case).The results of parental verification showed that 1 case was novel duplication,4 cases were inherited from parents with normal phenotype,and 1 case was not tested.After genetic counseling,2 pregnant women chose to terminate pregnancy,3 cases underwent surgery after birth,and 1 case lost to follow-up.Conclusion:Duodenal obstruction may be one of the specific prenatal ultrasonography findings for 17q12 microduplication syndrome.