胎儿侧脑室增宽的遗传学检测及预后分析

Genetic Detection and Pregnancy Outcome of Fetal Lateral Ventriculomegaly

目的通过对不同程度侧脑室增宽的胎儿进行染色体核型及染色体微阵列分析(chromosomal microarray analysis,CMA)检测,并对其妊娠结局进行分析,探讨胎儿侧脑室增宽的遗传学检测及妊娠结局。方法收集2016年3月~2020年3月在浙江大学医学院附属杭州市第一人民医院产前诊断中心的67例胎儿侧脑室增宽病例的临床资料进行回顾性分析。将67例按侧脑室增宽程度分为重度组、双侧轻-中度组、单侧轻-中度组,按照是否合并其他畸形分为孤立组和非孤立组,比较染色体核型和CMA在侧脑室增宽胎儿中的异常检出率,分析不同程度胎儿侧脑室增宽的妊娠结局。结果67例病例中,染色体核型异常检出率10.4%;CMA异常检出率23.9%,差异有统计学意义(P<0.05)。不同分组中胎儿CMA阳性检出率比较,差异无统计学意义。妊娠结局随访中单侧轻-中度组未发生神经系统异常,双侧轻-中度组中1例神经系统发育迟缓,且该例存在CMA异常;重度组7例中有6例选择引产,1例死胎。孤立组中,7例引产,其余44例分娩者未发生神经系统异常;非孤立组中14例引产,1例死胎,1例分娩,该例存在神经系统发育迟缓。结论CMA技术可提高遗传学因素的异常检出率,能够为侧脑室增宽的产前咨询和预后评估提供更为精确的遗传学依据,侧脑室增宽的胎儿预后取决于是否合并有其他结构异常、染色体异常及侧脑室增宽的程度。

Objective To explore the application value of genetic detection in fetal lateral ventriculomegaly,through the detection of chromosome karyotype and chromosome microarray analysis(CMA)in different degree of fetal lateral ventriculomegaly,and to analysis the pregnancy outcome.Methods A retrospective analysis was conducted in 67 women with singleton pregnancy,who were admitted in the prenatal diagnosis center of the Affiliated Hangzhou First People′s Hospital,Zhejiang University School of Medicine with the diagnosis of lateral ventriculomegaly in the fetuses by ultrasound between March 2016 to March 2020.Then we compared the detection rate of chromosomal abnormalities in the fetal ventriculomegaly by conventional karyotype and CMA,and analyze the pregnancy outcome of fetus with different degrees of cerebral ventriculomegaly by analyzing the results of CMA.67 cases was divided into three groups including severe group,bilateral mild-moderate group,unilateral mild-moderate group according to the widening degree;and also divided into two groups including isolated group and non-isolated group.Results In 67 cases,the detection rate of chromosomal karyotype abnormality was 10.4%,the detection rate of CMA was 23.9%,which had statistical differences.But there was no significant difference in the positive rate of CMA in different groups.During the follow-up of pregnancy outcome,there was no abnormality of nervous system in the unilateral mild-moderate group.In the bilateral mil-moderate group,there was a case of delayed nervous system development and CMA abnormality was found in this case.In 7 severe cases,6 cases were induced abortion and 1 case was stillborn.In the isolated group,7 cases were induced abortion,and the rest 44 cases were delivered with none nervous system abnormality.In the non-isolated group,14 cases were induced abortion,1 case was stillborn,1 case was delivered,and the living case had nervous system development retardation.Conclusion In this study,we demonstrate that CMA can improve the detection rate of genetic factor abnormalities,which can provide a more accurate genetic basis for prenatal consultation and prognosis evaluation of the fetus with lateral ventriculomegaly.The prognosis of the fetus depends on whether there are other structural abnormalities,chromosomal abnormalities or the extent of widened lateral ventricle.