产前超声在胎儿22q11.2微缺失综合征中的应用价值  

Diagnostic value of prenatal ultrasound in fetal 22q11.2 microdeletion syndrome

作　　者：杨忠[1] 时敬业 邓学东[1] 姜纬[1] 殷林亮[1] 潘琦[1] 梁泓[1] 马建芳[1] 王珍奇 张俊[1] 董姗姗 Yang Zhong;Shi Jingye;Deng Xuedong;Jiang Wei;Yin Linliang;Pan Qi;Liang Hong;Ma Jianfang;Wang Zhenqi;Zhang Jun;Dong Shanshan(Center for Medical Ultrasound,Suzhou Hospital Affliated to Nanjing Medical University,Suzhou 215002,China;Reproductive Center,Suzhou Hospital Affliated to Nanjing Medical University,Suzhou 215002,China)

机构地区：[1]南京医科大学附属苏州医院超声科,江苏苏州215000 [2]南京医科大学附属苏州医院生殖中心,江苏苏州215000

出　　处：《中华医学超声杂志（电子版）》2024年第9期852-858,共7页Chinese Journal of Medical Ultrasound(Electronic Edition)

基　　金：早孕期基于多指标联合预测胎儿生长受限模型构建的研究(F202044);基于影像基因组学的早孕期(11~13^(+6)周)颈项透明层增厚胎儿新型诊疗模式的建立和应用(LCZX202208)。

摘　　要：目的分析22q11.2微缺失综合征(22q11.2DS)胎儿超声征象及特点,探讨产前超声在22q11.2DS中的提示性诊断价值。方法回顾性分析2019年6月1日至2022年5月31日南京医科大学附属苏州医院优生优育中心实验室通过染色体微阵列(芯片)分析确诊的12例22q11.2DS胎儿的一般情况、产前指征及超声征象和特点。结果12例22q11.2DS胎儿中男性9例,女性3例。单纯心脏畸形5例(41.6%),合并心外畸形3例(25.0%),总计8例(66.7%)。从超声征象来看室间隔缺损5例占41.7%,其次肺动脉狭窄和心轴左偏分别是4例(33.3%)、3例(25.0%)。但从心脏复合畸形角度看,圆锥动脉干畸形占7例(58.3%),其中法洛四联症2例,室间隔缺损型肺动脉闭锁2例,室间隔缺损合并肺动脉狭窄2例,右心室双出口1例。右位主动脉弓合并左锁骨下动脉迷走2例,主动脉弓离断1例。在心外畸形中最常见的是胸腺发育不良3例(25.0%),其中2例合并心脏畸形,1例为单纯性胸腺发育不良。泌尿系畸形中1例为多囊肾同时合并长骨发育偏短。结论先天性心脏病尤其圆锥动脉干畸形及心轴异常、胸腺发育不良、骨骼、泌尿系畸形都是22q11.2DS的广泛畸形谱的表现,产前超声是其有效检查手段。Objective To retrospectively analyze the prenatal ultrasound signs and characteristics of 12 cases of fetal 22q11.2 microdeletion syndrome(22q11.2DS),and to assess the diagnostic value of prenatal ultrasound in detecting this condition.Methods This is a retrospective study in which the ultrasonic signs and characteristics of 12 cases of 22q11.2DS fetuses diagnosed by chromosome microarray analysis at the Center for Eugenics and Childbirth of Suzhou Hospital Affiliated to Nanjing Medical University from June 1,2019 to May 31,2022 were retrospectively analyzed,as well as the general clinical situation of pregnancy and prenatal diagnosis indications.Results Among the 1222q11.2DS fetuses,9 were male and 3 were female.Five fetuses had isolated cardiac malformation(41.6%),and 3 were complicated with extracardiac malformation(25.0%);thus,there were a total of 8(66.7%)cases of congenital heart disease(CHD).According to the ultrasonic signs,5 cases(41.7%)were ventricular septal defect,4(33.3%)were pulmonary artery stenosis,and 3(25.0%)were left cardiac axis deviation.However,from the perspective of heart complex malformation,there were 7(58.3%)cases of truncus conus malformation,2 cases of tetrad Fallot,2 cases of pulmonary atresia with ventricular septal defect,2 cases of ventricular septal defect combined with pulmonary stenosis,and 1 case of right ventricular double outlet.There were 2 cases of right aortic arch with aberrant left subclavian artery and 1 case of interrupter aortic arch.The most common extracardiac malformation was thymic dysplasia(n=3,25.0%),of which 2 cases were combined with cardiac malformation and 1 was isolated thymic dysplasia.One case of urinary malformation was multicystic dysplastic kidney with short long bone development.Conclusion CHD and especially conotruncal anomalies,axial abnormality,thymic dysplasia,and skeletal and urinary system malformation are manifestations of 22q11.2DS,and prenatal ultrasound is an effective examination method for 22q11.2DS.

关 键 词：22q11.2 微缺失综合征 胎儿 产前超声检查 先天性心脏病 圆锥动脉干畸形 

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]