早孕期胎儿先天性半月瓣缺如超声诊断与病理解剖的对照研究  

Comparative study on ultrasonic diagnosis and pathological anatomy of congenital absent semilunar valve in first trimester

作　　者：杨水华[1] 梁蒙凤 覃桂灿 杨祚建 黎新艳[1] 李雪芹[1] 田晓先[1] 何春[2] 赖允丽[3] 汤璐[4] 李胜利[5] Yang Shuihua;Liang Mengfeng;Qin Guican;Yang Zuojian;Li Xinyan;Li Xueqin;Tian Xiaoxian;He Chun;Lai Yunli;Tang Lu;Li Shengli(Department of Ultrasound,Guangxi Magernity&Child Healthcare Hospital,Nanning 530000,China;Department of Pathology,Guangxi Magernity&Child Healthcare Hospital,Nanning 530000,China;Genetic Metabolism Laboratory Guangxi Magernity&Child Healthcare Hospital,Nanning 530000,China;Maternal-fetal Medicine,Guangxi Magernity&Child Healthcare Hospital,Nanning 530000,China;Department of Ultrasound,Shenzhen Magernity&Child Healthcare Hospital of Southern Medical University,Shenzhen 518100,China)

机构地区：[1]广西壮族自治区妇幼保健院超声科,南宁530000 [2]广西壮族自治区妇幼保健院病理科,南宁530000 [3]广西壮族自治区妇幼保健院遗传代谢实验室,南宁530000 [4]广西壮族自治区妇幼保健院母胎医学科,南宁530000 [5]南方医科大学附属深圳市妇幼保健院超声科,518100

出　　处：《中华超声影像学杂志》2020年第1期52-59,共8页Chinese Journal of Ultrasonography

基　　金：广西妇幼保健院育苗计划(GXWCH-YMJH-2018010);广西医疗卫生适宜技术开发与推广应用项目(S2017062,S2019032)。

摘　　要：目的探讨早孕期胎儿先天性半月瓣缺如的超声心动图、病理解剖及遗传学异常特征。方法对2014年12月至2018年12月在广西壮族自治区妇幼保健院诊断的11例孕11~13+6周先天性半月瓣缺如胎儿的声像图进行分析,结合引产后心脏标本病理解剖异常所见与早孕期超声心动图特征进行对照研究。结果11例先天性半月瓣缺如胎儿头臀长46~74(62.0±9.2)mm,颈项透明层厚度(nuchal translucency thickness,NT)2.4~10.4(6.4±2.6)mm,10例NT>3.0 mm,11例彩色多普勒三血管气管切面均可显示主动脉和(或)肺动脉红蓝交替的"进出征"血流信号,可测得双期双向动脉血流频谱信号。11例胎儿中"窃血型"胎儿10例,分别为主动脉瓣缺如2例,肺动脉瓣缺如3例,双动脉瓣缺如5例;此10例均发生胎儿心力衰竭的继发性超声改变,染色体及基因分析有4例13-三体综合征,3例18-三体综合征,1例22q11.2缺失,1例12q24.32q24.33缺失,1例正常;8例解剖显示心脏均增大,2例主动脉瓣缺如(1例合并肺动脉闭锁、动脉导管缺失及胸腺缺如),3例肺动脉瓣缺如,3例双动脉瓣缺如,3例存在半月瓣遗迹,2例肺动脉瓣缺如及3例双动脉瓣缺如动脉导管均短而粗。"非窃血型"肺动脉瓣缺如1例(1/11),无胎儿心力衰竭的继发性超声改变,基因检测为22q11.2缺失,病理解剖存在半月瓣遗迹,并法洛四联症及动脉导管缺如。结论早孕期半月瓣缺如以"窃血型"为主,主动脉和(或)肺动脉的"进出征"及双期双向频谱是早孕期先天性半月瓣缺如的特征性声像图改变,13-三体综合征及18-三体综合征发生早孕期"窃血型"半月瓣缺如风险性明显增加。Objective To investigate the echocardiographic characteristics,pathological anatomy and genetic abnormality of congenital absent semilunar valves in first trimester.Methods Eleven cases of congenital absent semilunar valve fetus diagnosed at 11-13+6 weeks of gestation in Guangxi Magernity&Child Healthcare Hospital from December 2014 to December 2018 were analyzed.The characteristics of echocardiography and the abnormal microanatomy of cardiac tissue after labor induction was compared.Results The crown-lump length of the 11 fetus was 46-74(62.0±9.2)mm,and nuchal translucency thickness(NT)was 2.4-10.4(6.4±2.6)mm.The NT of 10 cases were greater than 3.0 mm.Color Doppler flow imaging revealed that biphasic bidirectional flow in the aortic arch and/or pulmonary artery at the 3VT view("to-and-fro")in those 11 cases,and pansystolic turbulence and pandiastolic reflux spectrum were showed on spectral Doppler.Among them,there were 10 cases of"stealing type",including 2 cases of isolate absent aortic valves,3 cases of absent pulmonary valves and 5 cases of absent both aortic and pulmonary valves;and all the 10 cases had secondary ultrasonic manifestations of fetal heart failure.Chromosome analysis and detection of genes showed that 4 cases with Trisomy 13 syndrome,3 cases with Trisomy 18 syndrome,1 case with 22q11.2 deletion,1 case with 12q24.32q24.33 deletion and 1 case was normal.Pathological anatomy revealed enlarged heart in 8 cases,isolate absent aortic valves in 2 cases(1 case complicated with pulmonary atresia,absence of ductus arteriosus and thymus),absent pulmonary valves in 3 cases,absent both aortic and pulmonary valves in 3 cases,relics of semilunar valves in 3 cases.And 2 cases of absent pulmonary valves and 3 cases of absent both aortic and pulmonary valves with short and thick ductus arteriosus.Only 1 case was congenital absent semilunar valve in"non-stealing type"without secondary ultrasonic manifestations of fetal heart failure.Chromosome analysis and detection of genes showed 22q11.2 deletion,and there w

关 键 词：超声心动描记术 先天性半月瓣缺如 早孕期 病理诊断 

分 类 号：R44[医药卫生—诊断学] R714[医药卫生—临床医学]