Department of Obstetrics and Gynecology, The Eighth Medical Center of the General Hospital of PLA, Beijing, China.
Department of Reproductive and Genetics, Hebei General Hospital, Shijiazhuang, Hebei Province, China.
BMC Pregnancy Childbirth. 2024 Nov 25;24(1):780. doi: 10.1186/s12884-024-06978-y.
Congenital heart disease (CHD) is a heterogeneous collection of structural abnormalities of the heart or great vessels that are present at birth. These birth defects are one of the leading causes of infant mortality and morbidity worldwide. The etiology and pathogenesis of CHD are unclear and largely considered to be multifactorial in nature. Since the chromosomal profile of CHD has not been analyzed in a large sample size, we aimed to summarize the clinical features, cytogenetics findings, and pregnancy outcomes of CHD to provide a clinical reference for prenatal diagnosis.
Among 21,152 pregnant women, 471 (2.23%) showed fetal CHD on cordocentesis or amniocentesis. The number of cases showing simple CHD, simple CHD with concomitant extracardiac structural abnormalities, complex CHD, and complex CHD with concomitant extracardiac structural abnormalities was 128, 124, 89, and 130, respectively. For prenatal genetic diagnosis, karyotyping was performed with single-nucleotide polymorphism array(SNP-array)-based chromosomal microarrays, fluorescence in situ hybridization (FISH), copy number variation sequencing (CNV-seq), and BACs-on-Beads™ (BoBs) analyses. The results of ultrasonography examinations, genetic analyses, and pregnancy outcomes were recorded in detail.
Ventricular septal defects (VSDs) were observed in 245 (52.02%) cases of fetal CHD. Among the 471 cases of CHD, 258 (54.78%) showed other ultrasound abnormalities. The most common ultrasound abnormalities were abnormalities of the central nervous system. The 471 cases included 93 (19.75%) cases showing chromosomal abnormalities, and the incidence of these abnormalities increased with advanced maternal age or the presence of other ultrasound abnormalities. In eight cases, karyotype analysis showed normal results while SNP-array or CNV-seq results were abnormal. Among the 453 cases that were followed up, 166 (36.64%) involved pregnancy termination, 273 (60.26%) involved live births, 7 (1.55%) involved fetal death in utero, and 7 (1.55%) involved neonatal death after birth.
Fetuses with CHD showed higher rates of chromosomal abnormalities. In cases diagnosed with fetal CHD during fetal ultrasonic examination, the mothers should undergo a careful and comprehensive fetal ultrasound scan as well as prenatal genetic testing, including karyotype analysis and SNP-array or CNV-sequencing. The prognosis for simple fetal CHD is good, while the prognosis for complex fetal CHD and extracardiac anomalies is poor.
先天性心脏病 (CHD) 是一种心脏或大血管结构异常的异质性集合，这些出生缺陷是全球婴儿死亡和发病的主要原因之一。CHD 的病因和发病机制尚不清楚，在很大程度上被认为是多因素的。由于 CHD 的染色体谱尚未在大样本量中进行分析，我们旨在总结 CHD 的临床特征、细胞遗传学发现和妊娠结局，为产前诊断提供临床参考。
在 21152 名孕妇中，471 名（2.23%）在脐带穿刺或羊膜穿刺术时显示胎儿 CHD。显示单纯 CHD、伴有心脏外结构异常的单纯 CHD、复杂 CHD 和伴有心脏外结构异常的复杂 CHD 的病例数分别为 128、124、89 和 130。对于产前遗传诊断，采用基于单核苷酸多态性微阵列（SNP-array）的染色体微阵列、荧光原位杂交（FISH）、拷贝数变异测序（CNV-seq）和 BACs-on-Beads™（BoBs）分析进行核型分析。详细记录了超声检查、遗传分析和妊娠结局的结果。
245 例（52.02%）胎儿 CHD 显示室间隔缺损（VSD）。在 471 例 CHD 中，258 例（54.78%）显示其他超声异常。最常见的超声异常是中枢神经系统异常。这 471 例中包括 93 例（19.75%）染色体异常病例，这些异常的发生率随着母亲年龄的增加或存在其他超声异常而增加。在 8 例中，核型分析结果正常，而 SNP-array 或 CNV-seq 结果异常。在 453 例可随访的病例中，166 例（36.64%）涉及妊娠终止，273 例（60.26%）涉及活产，7 例（1.55%）涉及胎儿宫内死亡，7 例（1.55%）涉及新生儿出生后死亡。
患有 CHD 的胎儿显示出更高的染色体异常率。在胎儿超声检查中诊断出胎儿 CHD 的情况下，母亲应进行仔细全面的胎儿超声检查以及产前遗传检测，包括核型分析和 SNP-array 或 CNV-sequencing。单纯性胎儿 CHD 的预后良好，而复杂性胎儿 CHD 和心脏外异常的预后较差。
