肾盂增宽胎儿染色体核型及染色体芯片的产前诊断  

Clinical application of standard karyotype and chromosomal microarray analysis in prenatal diagnosis of fetuses with pyelectasis

作　　者：周晓燕[1] 王艳[1] 孟露露[1] 周冉 罗春玉[1] 季修庆[1] 胡平[1] 许争峰[1] Zhou Xiaoyan;Wang Yan;Meng Lulu(Department of Prenatal Diagnosis,Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University,Nanjing 210001)

机构地区：[1]南京医科大学附属南京妇幼保健院产前诊断中心,南京210001

出　　处：《现代妇产科进展》2018年第10期748-752,共5页Progress in Obstetrics and Gynecology

基　　金：国家自然科学基金面上项目(No:81770236)

摘　　要：目的:探讨常规G显带染色体核型分析及染色体芯片分析(CMA)技术在肾盂增宽胎儿产前诊断中的应用价值,探讨肾盂增宽可能的遗传学病因。方法:选取产前超声发现肾盂增宽并选择行侵入性产前诊断的102例胎儿。对102例胎儿采用常规G显带染色体核型分析,并对部分染色体核型结果正常的胎儿行CMA分析。对所有胎儿的妊娠结局及预后进行电话随访和病例资料追踪,新生儿随访至2岁。结果:102例肾盂增宽病例中,101例胎儿染色体正常,1例异常,为47,XX,+18,染色体异常率为0.98%(1/102)。60例CMA结果均成功获得分析,其中4例胎儿存在致病性拷贝数异常(CNVs)(6.6%,4/60),包括17q12微缺失综合征2例、15q11.2微缺失综合征1例、2q23.1微缺失综合征1例,CNVs大小范围0.467~1.53Mb。将进行CMA检测的肾盂增宽病例分为孤立性肾盂增宽(30例)和肾盂增宽合并其他异常(30例)两组,致病性CNVs的检出率分别为6.6%(2/30)、6.6%(2/30);根据肾盂增宽程度将行CMA检测的60例病例分为3组:轻度肾盂增宽、中度肾盂增宽和重度肾盂增宽,致病性CNV检出率分别为0(0/21)、11.1%(1/9)、10%(3/30)。产前胎儿肾盂增宽消退率63.5%,总消退率(含出生后消退) 85.8%,胎儿肾积水出生后手术率12.9%。结论:核型和CMA检测结果正常的胎儿肾盂增宽多于产前或出生后消退,染色体非整倍体和染色体微缺失微重复是胎儿肾盂增宽的致病原因之一;核型和CMA检测对肾盂增宽胎儿进行产前诊断具有一定的价值。Objective:To explore the diagnostic utility of standard karyotyping and chromosomal microarray analysis(CMA)for pregnancies with fetal pyelectasis diagnosed by ultrasound and to investigate the genetic causes of fetal pyelectasis.Methods:102 cases of fetal pyelectasis were collected.All samples were subjected to karyotyping analysis.Among those with normal karyotype,60 cases were evaluated using CMA analysis.The prenatal and postnatal outcomes were assessed by telephone follow-up.Results:Among the 102 fetuses,1(0.98%)was detected with an abnormal karyotype.For the 101 cases with a normal karyotype,60 had accepted CMA analysis.pathogenic CNVs were identified in 4(6.6%)of the 60 cases,which sizes ranged from 0.467Mb to 1.53Mb.These included two 17q12 deletion,a 15q11.2 deletion and a 2q23.1 deletion.Pathogenic CNVs were detected respectively in 0(0/21),11.1%(1/9)and 10%(3/30)of those with mild,moderate and severe pathogenesis,in 6.6%and 6.6%of those with isolated and nonisolated pyelectasis.Total rates of dilatation evolution is 87%in prenatal and postpartum stage,for 63.5%of the fetuses dilatation disappeared in pregnancy spontaneously and 12.9%of cases needed surgical treatment after birth.Conclusion:There was significant correlation between pyelectasis and the presence of aneuploidies and pathogenic CNVs.In clinical practice,CMA is valuable in prenatal genetic diagnosis of fetuses with moderate or severe pyelectasis,and a normal karyotype should be considered for CMA.

关 键 词：微阵列比较基因组杂交 肾盂增宽 染色体非整倍体 拷贝数异常 产前诊断 

分 类 号：R715[医药卫生—妇产科学]