独眼畸形三倍体死胎一例  

A Case Report of Triploid Stillbirth with Cyclopia

作　　者：罗停 刘博[3] 周仲民 侯舒惠 刘瑾钰 彭梅[1] LUO Ting;LIU Bo;ZHOU Zhong-min;HOU Shu-hui;LIU Jin-yu;PENG Mei(Department of Obstetrics,The Second Xiangya Hospital of Central South University,Changsha 410011,China;Department of Obstetrics and Gynecology of Shanghai Ninth People′s Hospital,Shanghai JiaoTong University School of Medicine;Prenatal Diagnosis Center,The Second Xiangya Hospital of Central South University,Changsha 410011,China;Department of Obstetrics and Gynecology,Shanghai Ninth People′s Hospital,Shanghai JiaoTong University School of Medicine,Shanghai 200011,China)

机构地区：[1]中南大学湘雅二医院产科,长沙410011 [2]上海交通大学医学院附属第九人民医院妇产科 [3]上海交通大学医学院附属第九人民医院产前诊断中心

出　　处：《国际妇产科学杂志》2024年第2期203-205,共3页Journal of International Obstetrics and Gynecology

基　　金：中南大学教育教学改革研究项目(2023jy095,2023jy111)。

摘　　要：独眼畸形通常由于胚胎两眼原基未完全分离或者前脑中部发育障碍,导致两侧原始视泡向中线融合引发,是前脑无裂畸形相关面部畸形中最严重的一种表现。报告1例妊娠16周独眼畸形死胎病例,该例孕妇妊娠14+3周时行胎儿颈后透明层检查发现头颅内异常液性暗区,妊娠终止后引产儿面部可见单眼眶及其上方的前额鼻肉柱,经基因组拷贝数变异测序(copy number variation sequencing,CNV-seq)分析发现染色体三倍体变异、嵌合比约32%的X染色体嵌合重复以及嵌合比约32%的Y染色体嵌合缺失。独眼畸形的病因具有异质性,目前其发病机制尚未明确,妊娠期影像学检查和产前诊断为常用检查方法,在诊断后应尽早终止妊娠,减轻孕妇身心损害及社会医疗经济负担。Cyclopia typically arises from incomplete separation of the embryonic eye primordia or developmental disorders in the midline forebrain,leading to fusion of the original visual vesicles on both sides towards the midline.It represents the most severe facial manifestation within the holoprosencephaly spectrum.Here,we present a case of stillbirth at 16 weeks of pregnancy with cyclopia.At 14+3 weeks gestation,fetal nuchal translucency examination revealed a significant fluid-filled dark area within the skull.Following termination of pregnancy,only one orbit and an accompanying frontal nasal column were discernible on the face of the fetus.Copy number variation sequencing(CNV-seq)analysis demonstrated chromosomal triploid variation along with chimeric duplication involving the X chromosome at a ratio approximately equal to 32%,accompanied by chimeric deletion affecting the Y chromosome at a ratio approximately equal to 32%.The etiology underlying cyclopia is heterogeneous and its pathogenesis remains elusive.Prenatal diagnosis and medical imaging play crucial roles in identifying monocular malformations during pregnancy,enabling timely termination when detected early,thereby minimizing physical and psychological harm to pregnant women while alleviating healthcare costs.

关 键 词：眼畸形 胎儿 超声检查 产前 产前诊断 三倍体 死胎 

分 类 号：R714.53[医药卫生—妇产科学]