胎儿先天性心脏病的早孕期超声筛查及产前诊断结果分析  

First-trimester ultrasound screening for prenatal diagnosis of fetal congenital heart disease

作　　者：曾秀梅[1] 梁元豪 杜志成[3] 郭红梅[1] 陈秋妍[1] 林洋洋[2] Zeng Xiumei;Liang Yuanhao;Du Zhieheng;Guo Hongmei;Chen Qiuyan;Lin Yangyang(Department of Ultrasound,Dongguan Maternal and Child Health Hospital,Dongguan 523000,China（Zeng XM,Liang YH,Guo HM,Chen QY;Prenatal Diagnosis Center,Dongguan Maternal and Child Health Hospital,Dongguan 523000,China（Lin YY;Department of Medical Statistics and Epidemiology,School of Public Health,Sun Yat-sen University,Guangzhou 510080,China（Du ZC)

机构地区：[1]广东省东莞市妇幼保健院超声科,523000 [2]广东省东莞市妇幼保健院产前诊断中心,523000 [3]中山大学公共卫生学院医学统计与流行病学系,广州510080

出　　处：《中华围产医学杂志》2018年第11期737-744,共8页Chinese Journal of Perinatal Medicine

基　　金：东莞市社会科技发展项目（2014108101016）

摘　　要：目的探讨早孕期规范化超声筛查在诊断胎儿先天性心脏病（congenital heart disease，CHD）中的临床意义。方法回顾性分析2015年9月至2016年12月在东莞市妇幼保健院进行早孕期超声筛查的8383例孕妇的病历资料。早孕期采用规范化超声筛查方法，观察胎儿心脏位置、心尖指向、心尖四腔心切面及三血管气管切面等以发现胎儿CHD，并测量颈项透明层（nuchal translucency，NT）厚度。对NT增厚、早孕期超声筛查发现CHD，以及早孕期超声筛查未见异常而中孕超声筛查发现CHD的病例进行追踪随访，记录妊娠结局及新生儿1岁内的生长发育情况。引产后尸体解剖结果与常规核型分析及染色体微阵列分析（chromosomal microarray analysis，CMA）产前诊断结果进行对比分析。结果（1）8383例早孕期胎儿超声筛查检出胎儿CHD27例，检出率0．32％（27／8383）。27例中，10例（37．0％）单心房和／或单心室，7例（25．9％）心内膜垫缺损（其中2例合并永存动脉干），3例（11．1％）右心发育不良综合征，3例（11．1％）室间隔缺损，2例（7．4％）左心发育不良综合征，1例（3．7％）镜面右位心，1例（3．7％）右心增大、三尖瓣重度反流。27例中有19例（70．3％）NT增厚（NT值≥3．0mm），其中17例颈部淋巴水囊瘤（NT值≥6．0mm）。22例早孕期引产，引产后尸体解剖结果符合早孕期超声筛查结果；5例中孕期再行超声筛查。早孕期超声筛查发现异常者中有13例进行产前诊断（绒毛穿刺），7例染色体核型及CMA异常，其中1例22q11微缺失。（2）中孕期超声筛查检出胎儿CHD21例，包括16例早孕期超声筛查未见异常者，5例早孕期超声筛查异常但未引产者。21例中，4例（19．0％）心脏复杂畸形（包含3项或以上畸形），4例（19．0％）单纯室间隔缺损，3例（14．3％）右位主动脉弓、左锁骨下动脉迷走�Objective To investigate the value of standardized ultrasound screening in diagnosis of fetal congenital heart disease （CHD） during the first trimester. Methods This study retrospectively analyzed the clinical data of 8 383 fetuses who received ultrasound screening during the first trimester in the Dongguan Maternal and Child Health Hospital from September 2015 to December 2016. Standardized ultrasound was performed to observe fetal heart position, apical direction, apical four-chamber view, three vessels and trachea view and the thickness of nuchal translucency （NT）. Fetuses with thickened NT or fetal CHD observed during the first and second trimester were followed up. Pregnancy outcomes and the growth of newborns within one year after birth were recorded and analyzed. Pathological results after the termination of pregnancy were compared with the results of routine karyotyping and chromosome microarray analysis （CMA）. Results （1） A total of 27 cases of fetal CHD were identified during the first trimester giving a detection rate of 0.32% （27/8 383）. These included ten （37.0%） of single atrium and/or single ventricle, seven （25.9%） of endocardial cushion defect （including two complicated by persistent arterial trunk）, three （11.1%） of hypoplastic right heart syndrome, three （11.1%） of interventricular septal defect, two （7.4%） of hypoplastic left heart syndrome, one （3.7%） of mirror- image dextrocardia and one （3.7%） of right atrial enlargement and severe tricuspid regurgitation. Nineteen out of the 27 cases had NT thickening （NT≥ 3.0 mm） and 17 of them had a cystic hygroma （NT ≥ 6.0 mm）. Among the 27 cases, 22 were terminated in the first trimester which autopsy results were consistent with ultrasound and the other five were rescreened during the second trimester. Thirteen out of the 27 cases received chorionic villus sampling, and seven of them were found to have chromosomal abnormalities by karyotyping and CMA, among whom one was microdeletion of 2

关 键 词：心脏缺损 先天性 超声检查 产前 妊娠初期 微阵列分析 

分 类 号：R714.5[医药卫生—妇产科学]