17q12微缺失综合征的产前超声表现和遗传学分析

Clinical features and genetic analysis of 17q12 microdeletion syndrome in prenatal diagnosis

目的分析产前孕中晚期17q12微缺失胎儿的超声发现、染色体微阵列分析(CMA)结果、妊娠结局和跟踪随访,探索17q12微缺失综合征的基因组与临床表型的相关性,为产前咨询与诊断提供理论依据。方法对16例因超声提示胎儿肾脏实质性回声增强或结构异常行侵入性产前诊断羊水或脐带血穿刺,CMA检测结果为17q12微缺失的胎儿进行回顾性研究分析。结果16例17q12微缺失病例的缺失片段大小在1.42~1.94 Mb,区域内均包含HNF1B、LHX1等相关致病基因。14例为新发突变,2例遗传自母亲。15例肾脏双侧或单侧高回声,1例除肾脏结构畸形外还伴有心脏和肺部结构畸形。5例遗传咨询后选择终止妊娠,11例选择继续妊娠。结论产前胎儿17q12微缺失综合征的临床表型差异大,超声肾脏回声增强与其存在密切相关性。产前胎儿肾脏高回声行CMA检测,可准确诊断该综合征并明确其基因组学信息,为孕妇妊娠选择提供指导性建议。

Objective To analyze the ultrasound findings,CMA results,and pregnancy outcome of 17q12 microdeletion fetus in the second and third trimester,and to explore the correlation between the genome and clinical phenotype of 17q12microdeletion syndrome,to provide a theoretical basis for prenatal consultation and diagnosis of the syndrome.Methods 16fetuses with 17q12 microdeletion detected by chromosome microarray(CMA)who underwent invasive prenatal diagnosis of amniotic fluid or umbilical cord blood puncture due to hyperechogenic kidneys or abnormal structure suggested by ultrasound were studied and analyzed retrospectively.Results The size of the deletion fragment in 16 cases of 17q12 microdeletion ranged from 1.42 Mb to 1.94 Mb,and the region contained HNF1B,LHX1,and other related pathogenic genes.14 cases were new mutations,and two cases were inherited from the pregnant woman.Various renal abnormalities were found in 15 cases by ultrasonography,of which bilateral or unilateral hyperechoic kidney was the most common finding,and one case was severe renal structural malformation.After genetic counseling,5 cases chose to terminate the pregnancy,and 10 cases chose to continue the pregnancy.Conclusion The clinical phenotype of 17q12 microdeletion syndrome is quite different.There is a significant correlation between prenatal fetal ultrasound renal hyperechoic and 17q12 microdeletion syndrome.CMA detection of prenatal fetal renal hyperechoic cases can accurately diagnose the syndrome and clarify its genome information,providing professional opinions for the determination of pregnancy.