侧脑室扩张胎儿产前诊断及临床预后

Prenatal diagnosis and clinical prognosis of fetal ventriculomegaly

目的 探讨侧脑室扩张胎儿的产前诊断及预后,为产前咨询及临床处理提供依据。方法 回顾性分析2017年1月至2020年12月在南方医科大学南方医院妇产科行产前超声提示胎儿侧脑室扩张,并行介入性产前诊断的孕妇223例。根据首次超声检查的侧脑室宽度分为轻度组(10~11.9 mm)、中度组(12~14.9 mm)、重度组(≥15 mm)。根据首次超声诊断胎儿侧脑室扩张时的孕周分为中孕早期(孕18~23+6周)、中孕晚期(孕24~27+6周)、孕晚期(≥28周)。根据是否合并其他异常,分为孤立性侧脑室扩张组和非孤立性侧脑室扩张组,根据累及的侧脑室分为单侧侧脑室扩张组和双侧侧脑室扩张组。根据上述不同分组分析胎儿侧脑室扩张病例的染色体核型、基因芯片结果及妊娠结局。结果 173例纳入病例中,29例(29/173)染色体结果异常,轻度组染色体异常率为12.15%,中重度组为24.24%,差异有统计学意义(P=0.039)。162例(162/173)随访患者中122例分娩,40例引产。经Logistic回归分析,初诊孕周、侧脑室宽度及超声提示其他结构异常等因素对分娩结局有影响,差异有统计学意义(P<0.05)。对分娩的122例婴幼儿进行随访,1例出生后1周因严重脑积水夭折,孤立性侧脑室扩张与非孤立性侧脑室扩张胎儿出生后异常结局发生率比较[16.18%(11/68)vs 50.54%(47/93)],差异有统计学意义(χ^(2)=20.123,P<0.01)。结论 产前侧脑室扩张胎儿的预后受侧脑室宽度、是否伴发染色体异常及是否合并神经系统结构异常等多种因素影响,在排除病毒感染、胎儿染色体或基因异常后,需定期采用超声监测宫内转归情况。

Objective To investigate the prenatal diagnosis and prognosis of the fetus with lateral ventriculomegaly,and to provide basis for prenatal consultation and clinical treatment.Methods From January 2017 to December 2020,223 pregnant women who received prenatal ultrasound examination indicated fetal lateral ventricle dilation and further underwent interventional prenatal diagnosis in Department of Obstetrics and Gynecology,Nanfang Hospital,Southern Medical University were retrospectively analyzed.According to the lateral ventricular width of the first ultrasound examination,the patients were divided into mild group(10~11.9 mm),moderate group(12~14.9 mm),and severe group(≥15 mm).According to the first ultrasound diagnosis of fetal lateral ventricular dilatation,the gestational age was divided into the first trimester(18~23+6 weeks),the third trimester(24~27+6 weeks),and the third trimester(≥28 weeks).According to whether there were other abnormalities,they were divided into isolated ventriculomegaly(IVM)and nonisolated ventriculomegaly(NIVM).According to the involved lateral ventricles,the patients were divided into unilateral lateral ventricle dilatation group and bilateral lateral ventricular dilatation group.Chromosomal karyotypes,gene chip results and pregnancy outcomes of fetal lateral ventricular dilatation cases were analyzed according to the above groups.Results Among 173 included cases,29 cases(29/173)had abnormal chromosomal results,and the rate of chromosomal abnormalities was 12.15%in mild group and 24.24%in moderate and severe group,the difference was statistically significant(P=0.039).Of the 162 patients(162/173)followed up,122 delivered and 40 induced labor.Logistic regression analysis showed that gestational age at first diagnosis,lateral ventricle width and other structural abnormalities indicated by ultrasound examination had significant influence on delivery outcome(P<0.05).A total of 122 cases of infants were followed up,one case died due to severe hydrocephalus 1 week after birth,and the incidence of abnormal postnatal outcomes of isolated lateral ventricle dilation and nonisolated lateral ventricle dilation were compared[16.18%(11/68)vs 50.54%(47/93)],the difference was statistically significant(χ^(2)=20.123,P<0.01).Conclusions The prognosis of the fetus with lateral ventriculomegaly is affected by the width of lateral ventricle,whether accompanied by chromosomal abnormalities and whether accompanied by nervous system structural abnormalities.After excluding virus infection,fetal chromosomal or genetic abnormalities,ultrasound should be used to monitor the intrauterine outcome regularly.