17q12染色体微缺失综合征的产前超声表现及预后分析

摘要

目的 分析17q12染色体微缺失综合征的产前超声表现,为产前诊断提供依据.方法 回顾性分析2015年1月至2018年5月于郑州大学第三附属医院产前经染色体微阵列分析(CMA)诊断的21例17q12染色体微缺失综合征胎儿,总结其产前超声表现,并追踪随访预后情况.结果 21例胎儿中产前超声20例表现为双肾实质回声增强,1例表现为十二指肠梗阻;4例羊水过多,8例羊水偏多,余9例羊水量正常;6例父母进行了染色体检查,其中2例证实遗传自母亲,4例为新发染色体突变;7例伴有糖尿病家族史,3例伴有肾脏病家族史;12例引产,2例失访,1例未出生,6例出生,其中1例伴有面部轻微畸形,1例伴有双侧肾囊肿.结论 17q12染色体微缺失综合征具有特异性的产前超声特征,肾脏回声增强对提示17q12染色体微缺失综合征的意义较大.%Objective To summarize and analyze the prenatal ultrasonic manifestations of 17q12 microdeletion syndrome ,so as to provide help for prenatal diagnosis . Methods It carried out a retrospective analysis of 21 cases of 17q12 microdeletion syndrome prenatally confirmed by chromosomal microarray analysis(CMA) in the third affiliated hospital of Zhengzhou University from 2015 .01 to 2018 .05 . Prenatal ultrasound findings were collected . A close follow-up was given for the cases . Results Of the 21 fetus ,20 cases were presented with bilateral hyperechogenic kidneys ,and 1 case showed duodenal obstruction . There were 4 cases accompanied with polyhydramnios ,8 cases with mild polyhydramnio ,and 9 cases with normal amniotic fluid index . Parents of 6 fetus underwent chromosomal examination ,of which 2 cases were inherited from the mother and 4 cases had new chromosomal mutations;Seven cases had a family history of diabetes and 3 cases had a family history of kidney disease;Twelve cases performed induced labor ,2 cases lost follow-up and 1 case was unborn . Six cases were born ,of the 6 cases ,1 case associated with mild dysmorphic facial features , and 1 case associated with bilateral renal cysts . Conclusions 17q12 microdeletion syndrome has specific prenatal ultrasound characteristics ,while echogenic kidneys are of great value in the diagnosis of 17q12 microdeletion syndrome prenatally .