中晚期妊娠胎儿肾脏异常的遗传学原因及妊娠结局

Genetic causes and outcomes of fetus with renal abnormalities during the second and third trimester of pregnancy

目的:探讨妊娠中晚期胎儿肾脏异常的遗传学原因及妊娠结局。方法:对产前超声显示胎儿肾脏异常的121例孕妇行羊水穿刺进行染色体核型分析、拷贝数变异(CNVs)检测。结果:33.1%胎儿存在染色体异常或基因异常,其中2例胎儿有35Mb以上的基因重复,1例胎儿存在8号染色体三体嵌合,10例胎儿有1Mb~5Mb的基因微缺失。17q12微缺失、7q31.33微缺失和Xp22.31微重复在肾脏异常胎儿中发生概率较高(8/40),染色体异常或基因异常组胎儿妊娠终止率(32.5%)显著高于染色体正常组(3.7%)(P<0.05)。结论:孕妇产前超声显示胎儿肾脏异常时,应行遗传学分析,以利于对胎儿行精准医疗及采取优生优育的保护策略。

Objective:To investigate the genetic causes and pregnancy outcomes of fetus with renal abnormalities during the second and third trimester of pregnancy.Methods:Amniocentesis was performed on 121 pregnant women with fetal renal abnormalities by ultrasound.The amniotic fluid cells were tested by cytogenetic karyotype analysis and copy number variations(CNVs).Results:33.1%fetuses had chromosomal abnormalities or gene abnormalities,which included 2 fetuses had duplication of more than 35 Mb,1 fetus had trisomeric chimerism of chromosome 8,and 10 fetuses had 1 Mb-5 Mb gene microdeletion.17 q12 microdeletion,7 q31.33 microdeletion,and Xp22.31 microduplication were more likely to occur in the fetuses with renal abnormalities(8/40).The pregnancy termination rate of the fetuses with chromosomal abnormalities or gene abnormalities was significantly higher than that of the fetuses with normal chromosome.Conclusion:Genetic analysis should be performed in the fetuses with kidney abnormalities diagnosed by prenatal ultrasound,so as to the precise medical treatment and protective strategies of eugenics are implemented in these fetuses.