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近几年来,随着产检的规范化以及产前超声筛查和诊断技术的不断进步,越来越多的胎儿泌尿系畸形在产前被发现,其中胎儿肾盂扩张占大部分,占80%~87%[1]。当产前系统超声检查提示胎儿肾盂扩张,但未见其他结构畸形或其他超声软指标异常时,则称为孤立性肾盂扩张,其临床预后及产前咨询值得重视和关注。2019年4月《中华医学遗传学》刊发了《低深度全基因组测序技术在产前诊断中的应用专家共识》[2],指出染色体拷贝数变异测序(CNV-seq)可以作为一线产前诊断技术对可能存在胎儿染色体异常的孕妇进行产前诊断。本研究回顾性分析76例孤立性肾盂扩张行羊水穿刺的胎儿,对羊水CNV-seq结果进行分析,以期为胎儿孤立性肾盂扩张提供重要的产前咨询依据。现作报道。
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
Analysis of the sequencing results of whole genome chromosome copy number variation in isolated fetal pyelectasia
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摘要:
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。 Abstract: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. -
Key words:
- fetus /
- prenatal diagnosis /
- pyelectasia /
- copy number variation sequencing
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