5例17q12微缺失胎儿的临床特征

Clinical features of five cases of 17q12 microdeletion

目的探讨17q12微缺失胎儿及生后的临床特征,为产前诊断及遗传咨询提供参考。方法回顾性分析2020年4月至2023年6月于泉州市妇幼保健院·儿童医院经单核苷酸多态性微阵列诊断的5例胎儿17q12微缺失病例的临床资料,总结产前超声表现、遗传学病因、亲代临床特征及生后健康状况。采用描述性统计分析。结果5例胎儿羊水染色体核型分析均未见异常,但染色体17q12区段均存在1.4~1.8 Mb的片段微缺失,涉及20个在线人类孟德尔遗传数据库基因。5例胎儿均进行了家系验证,1例遗传自双肾多囊肾伴左肾积水的母亲,1例为新发,余3例遗传自父亲,其中1例父亲双肾多发囊肿,另2例父亲未见异常表现。5例胎儿产前超声均检出多项异常,其中4例肾实质回声增强、1例肾盂扩张。5例中2例选择引产终止妊娠,3例继续妊娠并足月分娩,生后随访1例生长发育和肾脏超声均未见异常,1例检出多囊肾,1例肾脏超声未见异常但3岁出现语言障碍及可疑孤独症表现。结论17q12微缺失胎儿期主要表现为肾实质回声增强,生后以多囊肾为最多见;产前发现者行家系验证是必要的,科学客观的遗传咨询有助于妊娠决策。

Objective To investigate the clinical features of 17q12 microdeletion cases before and after delivery,and provide a reference for prenatal diagnosis and genetic counseling.Methods A retrospective analysis was conducted on five fetuses diagnosed with 17q12 microdeletion by single nucleotide polymorphism array in Quanzhou Women's and Children's Hospital between April 2020 and June 2023.Clinical data including prenatal ultrasonography findings,genetic causes,parental clinical features,and postnatal outcomes were summarized and analyzed using descriptive statistical analysis.Results The five fetuses had normal results of karyotype analysis of amniotic fluid,but carried a microdeletion of 1.4 to 1.8 Mb in the 17q12 region of the chromosome,involving 20 genes listed in the Online Mendelian Inheritance in Man database.Pedigree verification was performed on all five cases and the results indicated one maternally inherited case with the mother having polycystic kidneys complicated by left hydronephrosis,one de novo case,and three paternally inherited cases with one father having multiple cysts in both kidneys and two fathers showing no abnormalities.Multiple abnormalities were found in the five fetuses by prenatal ultrasonography,including enhanced renal parenchymal echogenicity in four cases and pyelectasis in one case.Two cases chose to terminate the pregnancies,while the other three continued the pregnancies to full term.Postnatal follow-ups showed that one case was normal in growth and development with no abnormalities by renal ultrasound;one case developed polycystic kidney;one case with normal renal ultrasound findings had a speech disorder and symptoms of suspected autism at the age of three.Conclusions The main manifestation of 17q12 microdeletion is enhanced renal parenchymal echogenicity in the fetal stage and postnatal polycystic kidney.In prenatally diagnosed cases,pedigree verification is necessary as an objective and scientific genetic counseling is helpful in pregnancy decision-making.