Cantrell综合征15例产前超声表现分析  

Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome

作　　者：梁晓玲 叶璐 LIANG Xiaoling;YE Lu(Department of Ultrasound,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu 610045,China;Department of Ultrasound,Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川省妇幼保健院超声科,成都610045 [2]四川大学华西第二医院超声科、出生缺陷与相关妇儿疾病教育部重点实验室,成都610041

出　　处：《四川大学学报（医学版）》2024年第3期749-755,共7页Journal of Sichuan University(Medical Sciences)

基　　金：四川省科技计划项目重点研发项目(No.2023YFS0020)资助。

摘　　要：目的 总结分析Cantrell综合征胎儿产前超声表现及产后检查结果。方法 回顾性分析2018年3月至2023年7月产前超声诊断为Cantrell综合征并经引产标本或产后检查确诊的胎儿15例,分析产前超声图像表现及产后结果。结果 15例中有单胎10例及双胎之一5例。早孕期超声诊断13例,漏诊1例,漏诊率为7.1%;中孕期超声诊断2例。产前超声检查显示15例胎儿共有表现为异位心和腹部膨出团块。5例行胎儿超声心动图检查,发现心内畸形4例(80%);13例(86.7%)合并其他系统畸形;14例行颈项透明层(nuchal translucency, NT)检查的胎儿中有7例(50%)NT增厚,其中有颈部淋巴水囊瘤5例。10例单胎均被引产,引产胎儿标本外观与产前超声检查结果相符。5例双胎之一中有2例胎死宫内,2例行选择性减胎术,其中3例胎儿产后外观与产前超声检查结果相符,1例减胎术后胎儿在分娩时已显示不清;1例失访。4例引产胎儿行遗传学检查,均未查见相关的致病性或可能致病性变异。结论 Cantrell综合征产前超声共有表现为异位心和腹部膨出团块,心内畸形及伴发畸形多见;绝大多数可在早孕期由超声诊断,但也有漏诊可能,需在中孕期密切随访。Objective Cantrell syndrome,a rare congenital disorder,is characterized by a unique collection of defects on the midline abdominal wall,the lower sternum,the anterior diaphragm,and the diaphragmatic pericardium in addition to some form of intracardiac defect.So far,most of the reports on fetuses with Cantrell syndrome worldwide are either case reports or literature reviews,and few comprehensive studies on fetuses with Cantrell syndrome have been reported,especially in domestic literature.This study aims to provide a detailed analysis of 15 cases of Cantrell syndrome fetuses,focusing on their prenatal ultrasound manifestations and postnatal examination outcomes.Methods A retrospective analysis was conducted with 15 cases of fetuses diagnosed with Cantrell syndrome via prenatal ultrasound examinations between March 2018 and July 2023.Ultrasound examinations were performed in accordance with the Guidelines for Obstetric Ultrasound in China,including first-trimester fetal ultrasound scan and routine second-trimester fetal ultrasound scan.Gestational age was evaluated and nuchal translucency(NT)was measured during first-trimester fetal ultrasound scan at 11 to 13+6 weeks.The diagnostic criterion for NT thickening was NT≥3.0 mm and the screening of severe fetal structural malformations was performed,including the screening of the head,the neck,the thorax,the abdominal content,the abdominal wall,the limbs and other structures.During routine second-trimester fetal ultrasound scan,the fetal biometry was assessed and an anatomy survey was performed.Post-induction and postnatal outcomes of fetuses diagnosed with Cantrell syndrome by prenatal ultrasound were followed up by postnatal observation,inquiries with the electronic medical record system,or telephone follow-up.The prenatal ultrasound imaging manifestations and features of the fetuses with Cantrell syndrome,as well as their post-induction or postnatal examination results were comprehensively summarized and analyzed.Results The study involved pregnant women of the av

关 键 词：CANTRELL五联征 超声检查 产前 胎儿 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]