产前诊断胎儿间脑-中脑连接处发育不良1例  

Prenatal diagnosis of fetal diencephalic-mesencephalic junction dysplasia:a case report

作　　者：赵培伟[1] 陈露漪 张蕾[1] 何学莲[1] Peiwei Zhao;Luyi Chen;Lei Zhang;Xuelian He(Precision Medical Center,Wuhan Children's Hospital(Wuhan Maternal and Child Healthcare Hospital),Tongji Medical College,Huazhong University of Science&Technology,Wuhan 430016,China)

机构地区：[1]华中科技大学同济医学院附属武汉儿童医院(武汉市妇幼保健院)精准医学实验室,武汉430016 [2]华中科技大学同济医学院附属武汉儿童医院(武汉市妇幼保健院)孕产保健科,武汉430016

出　　处：《中华围产医学杂志》2023年第8期684-686,共3页Chinese Journal of Perinatal Medicine

摘　　要：本文报道1例产前诊断的胎儿间脑-中脑连接处发育不良病例。孕妇孕24周产前超声提示胎儿大小相当于孕22周、双顶径偏小、丘脑前缘回声增强。胎儿MRI平扫提示左侧脉络丛区短T2信号影,可疑出血和中脑-丘脑发育不良。全外显子组测序检出胎儿原钙黏蛋白12基因存在c.1558C>T纯合变异,Sanger测序验证发现其父母均为c.1558C>T杂合变异,该变异为致病性变异。结合临床表现,胎儿诊断为间脑-中脑连接处发育不良,遗传咨询后孕妇选择终止妊娠。We report a case of fetal diencephalic-mesencephalic junction dysplasia(DMJD)diagnosed prenatally.Prenatal ultrasound at 24 gestational weeks showed that the fetus was small,about the size at 22 weeks'gestation,with short biparietal diameter and enhanced echo at the anterior border of thalamus.Fetal MRI showed short T2 signal shadow in the left choroid plexus,and hemorrhage and midbrain dysplasia were suspected.A pathogenic homozygous mutation variant in protocadherins 12 gene(c.1558C>T)was found in this fetus by whole exome sequencing and both parents carried the same heterozygous variation revealed by Sanger sequencing.All of the above information lead to the diagnosis of fetal DMJD,and the pregnancy was terminated after genetic counseling.

关 键 词：间脑 中脑 畸形 多发性 原钙黏蛋白类 遗传变异 产前诊断 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]