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8 383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)8 383例早孕期胎儿超声筛查检出胎儿CHD 27例,检出率0.32%(27/8 383).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≥3.0 mm),其中17例颈部淋巴水囊瘤(NT值≥6.0 mm).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 CHD 21 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、"U"形血管环,3例(14.3%)右心发育不良综合征(其中1例合并冠状动脉右室瘘,1例合并室间隔缺损),2例(9.5%)大动脉转位,2例(9.5%)法洛四联症,1例(4.8%)左心发育不良综合征,1例(4.8%)右室双出口(Taussig-Bing畸形),1例(4.8%)主动脉弓缩窄.中孕期发现的16例CHD中,8例伴随NT增厚,其中1例颈部淋巴水囊瘤.21例中,2例因转院失访;4例经染色体核型及CMA筛查未见异常,足月(孕37~40周)阴道分娩,新生儿生后1 min Apgar评分均为10分,生后经超声检查证实中孕期超声筛查结果;其余15例引产,引产后尸体解剖结果符合中孕期超声筛查结果.中孕期超声筛查发现异常者中有11例进行产前诊断(羊水穿刺), 5例染色体核型及CMA异常,其中1例22q11微缺失. 结论 早孕期规范化超声筛查可为胎儿CHD诊断提供重要线索,对产前诊断具有较大临床应用价值.NT增厚对于及早发现胎儿心脏畸形与评估染色体异常具有重要提示作用.通过CMA筛查可更广泛地发现细胞核型正常的胎儿遗传物质异常.

abstractsObjective 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 22q11. (2) Twenty-one cases of CHD were detected in the second-trimester ultrasound screening, including five initially identified in the first trimester. These cases included four (19.0%) of complex cardiac malformations (with three or more malformations), four (19.0%) of interventricular septal defect, three (14.3%) of dextroaortic arch, left subclavian artery vagus and 'U' shaped vascular ring, three (14.3%) of hypoplastic right heart syndrome (including one complicated by coronary artery-right ventricular fistula and one by interventricular septal defect), two (9.5%) of transposition of the great arteries, two (9.5%) of tetralogy of Fallot, one (4.8%) of hypoplastic left heart syndrome, one (4.8%) of Taussig-Bing anomaly and one (4.8%) of coarctation of the aorta. Among the 16 cases first identified in the second trimester, eight had NT thickening, including one with cystic hygroma. Among the 21 cases, two were lost to follow-up after being transferred to another hospital; four with negative results in karyotype analysis and CMA were delivered vaginally at term (37-40 gestational weeks) with 1-min Apgar scores of ten points and postpartum ultrasound of the baby was consistent with the second-trimester ultrasound screening; 15 were terminated and the autopsy confirmed those findings in the second-trimester ultrasound screening. Eleven out of the 21 cases received amniocentesis and five of them were found to be abnormal according to karyotype analysis and CMA, including one of microdeletion of 22q11. Conclusions Standardized first-trimester ultrasound screening is important and of great clinical value in the diagnosis of fetal CHD. Increased NT thickness could be a key indicator of fetal CHD and chromosomal abnormalities in early pregnancy. CMA may facilitate detecting the abnormality of genetic material in fetuses with normal chromosome karyotype.