【摘要】 目的 观察产前超声软指标筛查联合染色体微阵列分析技术(CMA)评估先天性心脏病(CHD)胎儿预后的价值。方法 纳入320胎接受CMA的CHD胎儿，根据超声所见将胎儿分为单一心脏畸形组(A组，n=153)、多发心脏畸形组(B组，n=70)、心脏畸形并超声软指标异常组(C组，n=75)、心脏畸形合并心外畸形组(D组，n=14)及心脏畸形合并超声软指标异常和心外畸形组(E组，n=8),比较组间致病性/可能致病性染色体异常率的差异，以及不同妊娠结局胎儿超声及CMA结果差异；以孕妇年龄、侵入性产前诊断时孕周、产前超声及CMA结果为变量，采用二元logistic回归筛选影响妊娠结局的因素。结果 VSD为最常见心脏畸形(158/320,49.38%);35胎(35/320,10.94%)CMA结果异常。致病性或可能致病性染色体异常率在A～E组分别为5.23%(8/153)、10.00%(7/70)、17.33%(13/75)、21.43%(3/14)及50.00%(4/8),C组及E组检出率高于A组(P均<0.05)。随访资料完整的277胎中，206胎结局良好、71胎结局不良；不同妊娠结局胎儿超声及CMA结果差异均有统计学意义(P均<0.001)。孕周、产前超声及CMA结果是CHD胎儿预后的独立影响因素(OR=0.82、10.97、37.22,P均<0.05)。结论 产前超声及CMA结果对于评估CHD胎儿预后具有重要意义；超声软指标异常预示基因组异常风险增加。更多还原

【Abstract】 Objective To observe the value of prenatal ultrasonographic soft markers combined with chromosomal microarray analysis(CMA) for evaluating prognosis of fetuses with congenital heart diseases(CHD). Methods Data of 320 fetuses with CHD and underwent CMA were analyzed. The fetuses were divided into group A(single heart malformation, n=153), group B(multiple heart malformations, n=70), group C(heart malformations combined with abnormal ultrasonographic soft markers, n=75), group D(heart malformations combined with extracardiac malformations, n=14), and group E(heart malformations combined with abnormal ultrasonographic soft markers and extracardiac malformations, n=8) according to the ultrasonic findings, and the incidences of pathogenic or likely pathogenic chromosomal abnormalities were compared among groups, while prenatal ultrasound and CMA results were compared between different pregnancy outcomes. Taken maternal age, gestational week at invasive prenatal diagnosis, prenatal ultrasound and CMA results as variables, binary logistic regression analysis was performed to screen impact factors of pregnancy outcome. Results Among 320 fetuses, ventricular septal defect(VSD) was the most common congenital cardiac anomalies(158/320, 49.38%). Abnormal CMA results were found in 35 fetuses(35/320, 10.94%). The detection rate of pathogenic or likely pathogenic chromosomal abnormalities in groups A to E was 5.23%(8/153), 10.00%(7/70), 17.33%(13/75), 21.43%(3/14) and 50.00%(4/8), respectively, which in groups C and E were higher than in group A(both P<0.05). Totally complete follow-up data were obtained in 277 fetuses, including 206 had good outcomes(good group) and 71 had adverse outcomes(bad group), and significant differences of prenatal ultrasound and CMA results were found between groups(both P<0.001). Gestational week at invasive prenatal diagnosis, prenatal ultrasound and CMA results were all independent impact factors for prognosis of CHD fetuses(OR=0.82, 10.97, 37.22, all P<0.05). Conclusion Prenatal ultrasound and CMA were of great significances for evaluating prognosis of CHD fetus. Abnormal ultrasonographic soft markers might indicate increased risk of genetic abnormalities.更多还原