胎儿常见中枢神经系统异常的临床咨询

Clinical consultation on common fetal central nervous system anomalies

胎儿中枢神经系统(central nervous system,CNS)异常是常见的先天性出生缺陷,也是产前检查与咨询的重要内容。文章首先介绍了CNS产前超声的检查方法,包括妊娠早期筛查、中期筛查与针对性检查的切面、技术、方法与结构。并根据总体预后,将CNS异常分为致死性异常、非致死性异常、软指标或微小异常三类进行咨询,主要阐述了露脑-无脑畸形、无叶全前脑、Dandy Walker畸形、胼胝体发育不全、蛛网膜囊肿、脉络膜囊肿、侧脑室增宽等常见异常的产前诊断策略、合并相关异常、遗传评估和预后等信息。

Fetal central nervous system anomalies are common congenital birth defects and important contents in prenatal examination and consultation. The paper introduced the prenatal ultrasound examinations of CNS,including the planes,techniques,methods and structures for first-trimester screening,second-trimester screening and targeted examinations. The anomalies were divided into three categories according to the overall prognosis of CNS:lethal anomalies,nonlethal anomalies,and soft markers or minor anomalies.Information on prenatal diagnosis strategies,associated abnormalities,genetic evaluation and prognosis of common CNS anomalies were elaborated,including exencephaly-anencephaly sequence,alobar holoprosencephaly,Dandy Walker malformation,agenesis of the corpus callosum,arachnoid cyst,choroid plexus cyst and mild ventriculomegaly.