胎儿临界性侧脑室增宽与拷贝数变异及孕妇妊娠结局的相关性

Correlation of fetal ventriculomegaly with copy number variations and pregnancy outcome

目的探讨胎儿临界性侧脑室增宽(ventriculomegaly,VM)与拷贝数变异(copy numbervariations.CNVs)以及妊娠结局的相关性。方法―选取84例经超声诊断为VM的单胎妊娠病例,用染色体微阵列分析胎儿的基因组CNVs.记录妊娠结局和新生儿的发育情况。根据侧脑室增宽的程度将对象分为轻度组(10~12 mm),中度组(12~15 mm),以及重度组(≥15 mm),比较各组致病性CNVs的检出情况以及孕妇的妊娠结局。用多因素Logistic回归法分析影响胎儿宫内转归的因素。结果﹑84例胎儿中,轻、中、重度VM各占24,28,32例。共检出基因组异常15例,其中致病性CNVs 11例,异常核型4例。20例发生异常妊娠结局,包括12例脑积水,8例染色体微缺失综合征。3组胎儿的致病性CNVs以及异常妊娠结局的发生率差异具有统计学意义(P<0.05)。多因素Logistic回归分析显示侧脑室宽度变化最大值(OR=1.868.95%CI=1.120~3.116)、VM程度(OR=1.571,95%CI=1.120~2.206)是影响胎儿转归的关键因素(P<0.05)。结论胎儿临界性VM可增加致病性CNVs以及异常妊娠结局的发生风险,在超声确诊后需全面检查,以支持产前咨询和预后评估。

Objective To assess the correlation of borderline fetal ventriculomegaly with genomic copynumber variations(CNVs)and outcome of pregnancy.Methods For 84 singleton pregnancies diagnosedwith VM,chromosomal microarray analysis(CMA)was carried out to detect the CNVs of the fetalgenome.Outcome of the pregnancy and neonatal development were analyzed.The pregnant women weredivided into mild group(10-12 mm),moderate group(12-15 mm)and severe group(≥15 mm)based onthe severity of fetal ventriculomegaly.The detection rate of pathogenic CNVs and pregnancy outcome werecompared.Multivariate logistic regression was carried out to analyze the predictors for pregnancy outcome.Results Respectively,24,28 and 32 fetuses were assigned into the mild,moderate and severe groups.CMA has detected 15 cases of chromosomal abnormalities,including 11 pathogenic CNVs and 4 abnormalkaryotypes.Abnormal pregnancy outcomes were found in 20 fetuses,including 12 with hydrocephalus and 8with chromosomal microdeletion syndromes.A significant difference was found in the detection rate of fetalpathogenic CNVs and abnormal pregnancy outcome among the three groups(P<0.05).Multivariatelogistic regression analysis showed that the largest change of lateral ventricle width(OR=1.868,95%CI=1.120-3.1l6)and the extent of lateral ventricle widening(OR=1.571,95%CI=1.120-2.206)were thekey factors affecting the outcome of pregnancy(P<0.05).Conclusion Borderline fetal VM is associatedwith the risk of pathogenic CNVs and adverse pregnancy outcome.A comprehensive examination is requiredafter prenatal ultrasound diagnosis.which is conducive to prenatal consultation and prognostic evaluation ofthe fetus.