胎儿半侧巨脑畸形的产前超声诊断及研究分析

Ultrasonographic study of fetal hemimegalencephaly

目的研究和分析妊娠中期胎儿半侧巨脑畸形(HME)的声像图特征。方法回顾并分析2008年1月至2020年10月在南方医科大学第一临床医学院深圳市妇幼保健院行妊娠中期超声筛查发现并经磁共振确诊的4例HME胎儿的超声声像图特征。结果4例妊娠中期HME胎儿产前超声均显示大脑半球不对称、脑中线结构偏移、皮质厚度不均匀、外侧裂形态不对称、欠规整。其中1例伴侧脑室严重积水;1例伴胼胝体发育不良、视隔发育不良、小脑半球及蚓部发育不良、双侧脑积水、鼻骨发育不良;1例伴脑中线囊肿,与文献报道的超声特征相符。4例均经磁共振确诊。结论HME是罕见的先天性中枢神经系统发育畸形,产前超声表现较典型,早期超声筛查可为孕母产前咨询及早期干预提供更多信息。

Objective To explore the sonographic features of fetal hemimegalencephaly(HME)in the second trimester of pregnancy.Methods The prenatal ultrasonograms of 4 fetuses,which were diagnosed as having HME at Shenzhen Maternal and Child Health Hospital of Southern Medical University from January 2008 to October 2020,were retrospectively reviewed.Results The prenatal ultrasonograms of the 4 HME fetuses were characterized as hemisphere asymmetry,shift in midline structure,uneven cortical thickness,and sylvian fissure asymmetry.Among them,1 case had severe hydrocephalus in the lateral ventricle,1 had corpus callosum hypoplasia,optic septum hypoplasia,cerebellar hemisphere and vermis hypoplasia,bilateral hydrocephalus,and nasal bone hypoplasia,and 1 had craniocerebral midline cyst,which was consistent with the ultrasound features reported in the literature.All 4 cases were confirmed by MRI.Conclusion HME is a rare congenital developmental malformation of the central system with typical prenatal ultrasound findings.Timely prenatal ultrasound screening can provide more information for prenatal counseling and early intervention for pregnant mothers.