广西地区425例侧脑室增宽胎儿遗传学因素分析

Genetic testing and pregnant outcomes of 425 cases ventriculomegaly fetuses

目的分析胎儿侧脑室增宽的遗传学检测结果及妊娠结局。方法对425例产前超声检查侧脑室增宽胎儿的超声、遗传学检查结果及妊娠结局进行回顾性分析。结果侧脑室增宽胎儿中染色体或/和基因芯片阳性检出率为16.94%(72/425),染色体阳性检出率为10.63%(44/414),包括数目异常33例和结构异常11例;基因芯片阳性检出率为79.71%(55/69),包括致病性拷贝数变异15例。染色体或/和基因芯片阳性检出率比较,脑积水胎儿为36.36%(8/22)高于侧脑室增宽轻度增宽胎儿的15.88%(64/406)(P<0.05),在侧脑室轻度增宽胎儿中,双侧增宽胎儿为25.36%(35/138)高于单侧增宽胎儿的10.94%(29/265)(P<0.05),合并其他异常超声胎儿为35.86%(52/145)高于无合并其他异常表现的7.14%(20/280)(P<0.05)。72例遗传检查阳性胎儿中,55直接引产,1例死胎,16例无异常;其余胎儿47例合并超声异常直接引产,2例流产,308例分娩,1例新生儿死亡,1例夭折。结论本地区胎儿侧脑室增宽与遗传学因素密切相关,染色体核型分析联合基因芯片检测可以极大的提高遗传学因素的异常检出率,分析遗传学因素可明确发病原因,给临床咨询提供依据。

Objective:To analyze the genetic testing and pregnancy outcome of ventriculomegaly fetus. Methods:The ultrasonographic features,genetic testing andpregnancy outcomes of 425 fetuses with ventriculomegaly. Results:The positive rate of chromosome or/and gene chip was 16.94%(72/425),and it was 10.63%(44/414)of chromosome,including 33 cases with abnormal number and 11 cases with structural abnormality. It was 79.71%(55/69)of gene chip,including 15 cases of pathogenic copy number variation. Comparing Chromosome positive rate and/or gene chip,there was significant difference between hydrocephalus fetus(36.36%,8/22)and mild ventriculomegaly fetus(15.88%,64/406)(P<0.05). In mild ventriculomegaly fetus,that was significant difference between bilateral ventriculomegaly fetus(25.36%,35/138)and unilateral ventriculomegaly fetus(10.94%,29/265)(P<0.05). That was also significant difference between combining other abnormal ultrasound(35.86%,52/145)and without combining other abnormality(7.14%,20/280)(P<0.05). Among 72 fetuses with positive genetic testing,there were 55 cases of induced labor,one case of stillborn and 16 cases of normal. In other fetuses,there were 47 cases with abnormal ultrasound of induced labor,2 cases of aborted and 308 cases born,including one case of neonatal death and one child die. Conclusion:In this area,ventriculomegaly was closely related to genetic factors. chromosome karyotype analysis combined with gene chip can greatly improve the abnormal detection rate of genetic factors.