Yin Jun, Zhang Xiaomeng, Wang Qingsong, Cao Qian, Ou Huimin, Zhao Zhihui, Xu Shuqiong, Wang Junru, Xia Li, Zhang Bin, Xiao Xuemei, Luo Tongyong, Wang Xianmin
Department of Ultrasound, Jintang First People's Hospital, West China Hospital Sichuan University Jintang Hospital, Chengdu, Sichuan, China.
Pediatric Cardiology Center, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Front Med (Lausanne). 2025 Aug 29;12:1586161. doi: 10.3389/fmed.2025.1586161. eCollection 2025.
To assess the diagnostic efficacy of echocardiography, chromosome karyotyping, and chromosomal microarray analysis (CMA) in congenital cardiac anomalies.
This retrospective cohort study analyzed data from 3,386 pregnant women who underwent echocardiography and amniocentesis at the Sichuan Provincial Maternal and Child Health Care Hospital between January 2020 and August 2022. The study group included 697 women whose fetuses were diagnosed with congenital heart disease (CHD) by echocardiography, while the comparison group included 2,689 women with normal echocardiographic results. The diagnostic contributions of echocardiography, karyotyping, and CMA were compared between the two groups.
Among the 697 cases diagnosed with CHD, the most common types were ventricular septal defect (44.45%) and valve abnormalities (40.66%). Chromosomal abnormalities were detected in 41 out of 629 CHD cases (6.52%) by karyotyping, with higher rates in complex CHD (16.36%) and CHD with extracardiac anomalies (23.08%) compared to the comparison group (4.71%). CMA identified 34 pathogenic copy number variations (CNVs) (5.28%) and 9 variants of unknown significance (VOUS) (1.40%) in 644 CHD cases, with higher CNV detection rates in complex CHD (7.69%) and CHD with extracardiac anomalies (7.69%) compared to the comparison group (1.38%). CMA further identified pathogenic CNVs in 4.42% (26/588) of CHD cases with a normal karyotype, yielding an incremental diagnostic rate of 4.42%.
Echocardiography remains the cornerstone for the prenatal detection of fetal heart malformations. When combined with karyotyping and CMA, this integrated approach achieves maximal detection of both macroscopic and submicroscopic genomic alterations-particularly in complex cardiac malformations or when extracardiac anomalies coexist-thereby delivering timely, comprehensive genetic information to guide early intervention and tailored perinatal counseling.
评估超声心动图、染色体核型分析和染色体微阵列分析（CMA）在先天性心脏畸形中的诊断效能。
这项回顾性队列研究分析了2020年1月至2022年8月期间在四川省妇幼保健院接受超声心动图检查和羊水穿刺的3386名孕妇的数据。研究组包括697名胎儿经超声心动图诊断为先天性心脏病（CHD）的女性，而对照组包括2689名超声心动图结果正常的女性。比较两组中超声心动图、核型分析和CMA的诊断贡献。
在697例诊断为CHD的病例中，最常见的类型是室间隔缺损（44.45%）和瓣膜异常（40.66%）。通过核型分析在629例CHD病例中的41例（6.52%）检测到染色体异常，与对照组（4.71%）相比，复杂CHD（16.36%）和伴有心外异常的CHD（23.08%）中的发生率更高。CMA在644例CHD病例中鉴定出34个致病性拷贝数变异（CNV）（5.28%）和9个意义未明的变异（VOUS）（1.40%），与对照组（1.38%）相比，复杂CHD（7.69%）和伴有心外异常的CHD（7.69%）中的CNV检测率更高。CMA在核型正常的CHD病例的4.42%（26/588）中进一步鉴定出致病性CNV，增加的诊断率为4.42%。
超声心动图仍然是胎儿心脏畸形产前检测的基石。当与核型分析和CMA结合时，这种综合方法能够最大程度地检测宏观和亚微观基因组改变，特别是在复杂心脏畸形或心外异常共存时，从而提供及时、全面的遗传信息以指导早期干预和个性化围产期咨询。
