染色体17q12微缺失综合征与胎儿肾脏回声增强的相关性研究

Study on the correlation between chromosome 17q12 microdeletion syndrome and fetal renal echo enhancement

目的通过对胎儿诊断为染色体17q12微缺失综合征的临床资料进行分析,探讨该综合征的主要临床表现及可能发病机制,为染色体17q12微缺失综合征胎儿的产前诊断及遗传咨询提供依据。方法选取2019年1月至2021年3月因产前超声诊断为胎儿肾脏回声增强就诊于江西省妇幼保健院医学遗传中心的患者。经羊膜腔穿刺术及脐静脉血穿刺术收集标本,同时行染色体核型分析及染色体微阵列分析(CMA)。结果CMA检测结果提示染色体17q12微缺失6例,缺失片段在1.42~1.91 Mb之间,其中有4例产前系统超声筛查提示胎儿双肾回声增强,1例提示胎儿左肾多囊肾发育不良,右肾回声增强,还有1例胎儿孕早期筛查NT3.9 mm,孕20周行彩超提示双肾回声增强。经遗传咨询,3例胎儿终止妊娠,3例胎儿已正常出生,目前跟踪随访。结论当产前系统超声筛查胎儿肾脏结构异常时,尤其是提示胎儿肾脏回声增强,建议行产前诊断排除胎儿是否存在染色体17q12微缺失综合征并提供详细遗传咨询。

Objective By analyzing the clinical data of the fetus diagnosed as chromosome 17ql2 microdeletion syndrome,the main clinical manifestations and possible pathogenesis of the syndrome were discussed,and the basis for prenatal diagnosis and genetic counseling of the fetus with chromosome 17ql2 microdeletion syndrome was provided.Methods Patients with fetal renal echo enhancement diagnosed by prenatal ultrasound were enrolled in the Medical Genetics Center of Maternal and Child Health Hospital of Jiangxi Province from January 2019 to March 2021.Samples were collected by amniocentesis and umbilical venous blood puncture.Chromosome karyotype analysis and chromosome microarray analysis(CMA)were performed.Results The results of CMA test indicated 6 cases of chromosome 17ql2 microdeletion,with the deletion fragment ranging from 1.42 to 1.91Mb.A-mong them,4 cases of prenatal systematic ultrasound screening indicated enhanced echo in both fetal kidneys,1 case indicated left polycystic kidney dysplasia and enhanced echo in right kidney,and 1 case of early pregnancy screening NT3.9mm.Color ultrasound at 20 weeks of gestation indicated enhanced echo in both kidneys.After genetic counseling,3 fetuses were terminated,and 3 fetuses were bom normally.Conclusion When prenatal system ultrasound screening fetal kidney structural abnormalities,especially the enhancement o£fetal kidney echo,it is recommended to perform prenatal diagnosis to exclude whether the fetus has chromosome 17q12 microdeletion syndrome and provide detailed genetic counseling.