胎儿侧脑室增宽的产前遗传学诊断与预后分析

Prenatal genetic diagnosis and prognosis analysis of fetal ventriculomegaly

目的探讨侧脑室增宽(VM)胎儿的产前遗传学诊断及预后。方法回顾性分析2017年1月至2020年1月安徽医科大学附属省妇幼保健院产前诊断为VM的302例孕妇的临床资料,根据VM增宽程度分为A组(10.0~12.0mm)230例、B组(12.1~14.9mm)48例和C组(≥15.0mm)24例,定期随访VM胎儿的宫内转归及预后情况。结果同时行染色体核型和染色体微阵列分析的异常检出率(22.7%)高于单独使用染色体微阵列分析(21.7%)。孤立性侧脑室增宽(IVM)胎儿宫内转归(52.7%)优于非孤立性侧脑室增宽(NIVM)(9.1%)(P<0.05),A组宫内转归优于B组(P<0.05)。A组存活率(100.0%)高于B组(83.3%)(P<0.05),B组婴幼儿生长发育异常发生率(40.0%)高于A组(10.1%)(P<0.05)。结论产前VM胎儿的宫内转归及预后受侧脑室宽度、染色体异常及伴随神经系统异常等多种因素共同影响,建议合并其他超声异常的胎儿行MRI和遗传学检查,避免严重的出生缺陷。

Objective To investigate the prenatal genetic diagnosis and prognosis of fetal ventriculomegaly.Methods The clinical data of 302 pregnant women diagnosed with VM in Maternal and Child Health Care Hospital Affiliated to Anhui Medical University from January 2017 to January 2020 were retrospectively analyzed.According to the extent of VM widening,they were divided into group A(10.0-12.0mm)(n=230),group B(12.1-14.9mm)(n=48)and group C(≥15.0mm)(n=24).The intrauterine outcome and prognosis of VM fetuses were followed up regularly.Results The abnormal detection rate of chromosome karyotype and microarray analysis(22.7%)was higher than that of microarray analysis alone(21.7%).The intrauterine outcome of isolated lateral ventricular widening(IVM)fetus(52.7%)was better than that of non-isolated lateral ventricular widening(NIVM)fetus(9.1%)(P<0.05),and the intrauterine outcome of group A was better than that of group B(P<0.05).The survival rate of group A(100.0%)was higher than that of group B(83.3%)(P<0.05),and the incidence of abnormal growth and development in group B(40.0%)was higher than that in group A(10.1%)(P<0.05).Conclusions Intrauterine outcomes and prognosis of prenatal VM fetuses are affected by multiple factors such as lateral ventricle width,chromosomal abnormalities and accompanying neurological abnormalities.It is recommended that fetuses with other ultrasound abnormalities be examined by MRI and genetic examination to avoid serious birth defects.