孤立性肾盂扩张胎儿全基因组染色体拷贝数变异测序结果分析

目的探讨胎儿孤立性肾盂扩张染色体拷贝数变异测序（CNV-seq）结果及预后。方法对76例孤立性肾盂扩张胎儿进行介入性产前诊断，回顾性分析其染色体核型及CNV-seq结果，随访妊娠结局。结果76例孤立性肾盂扩张胎儿的染色体核型分析仅1例唐氏综合征，1例9号染色体倒位。76例胎儿CNV-seq分析同样仅有1例为唐氏综合征，2例为多态性拷贝数变异（CNV），其余均未发现致病性、可能致病性或致病性未知的CNV。76例肾盂扩张出生胎儿中男孩51例，女孩25例。2例引产，其中1例因唐氏综合征引产，另1例因胎儿双肾重度积水引产。其余74例活产复查B超未见有肾盂扩张加重或肾积水。结论胎儿孤立性肾盂扩张绝大部分预后良好，除非孕妇唐氏筛查或无创产前检测高风险，产前无需常规行CNV-seq分析。

Analysis of the sequencing results of whole genome chromosome copy number variation in isolated fetal pyelectasia

ObjectiveTo investigate the results of copy number variation sequencing(CNV-seq) and prognosis of isolated fetal pyelectasis.MethodsThe interventional prenatal diagnosis was performed in 76 fetuses with isolated pyelectasia, and the data of chromosomal karyotypes and CNV-seq were retrospectively analyzed.The pregnancy outcomes were followed up.ResultsThe analysis results of chromosomal karyotype in 76 fetuses with isolated pyelectasia showed that only 1 case was with D Down's syndrome, and 1 case was with chromosome 9 inversion.The results of CNV-seq analysis in 76 fetuses showed that only 1 case was with Down's syndrome, 2 cases were with polymorphic copy number variation(CNV), and no other CNV with pathogenicity, potential pathogenicity or unknown pathogenicity was found.Among 6 cases with pyelectasia, 51 cases were boys and 25 cases were girls.Two cases were induced labour, which included 1 case with Down's syndrome and 1 case with severe fetal hydronephrosis.In the remaining 74 live births, B-ultrasonography showed no exacerbation of pyelectasia or hydronephrosis.ConclusionsThe vast majority of isolated fetal pyelectasia have a good prognosis, unless the pregnant woman is at high risk for Down's screening or noninvasive prenatal testing, and the routine prenatal CNV-seq analysis is not required.