Lan Fuying, Chen Zhongzhong, Lin Xiaoling
Department of Urology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Urogenital Development Research Center, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Intractable Rare Dis Res. 2024 Feb;13(1):29-35. doi: 10.5582/irdr.2023.01100.
Previous studies have indicated an elevated risk of infertility in certain birth defects, including congenital heart disease (CHD), hypospadias, cryptorchidism, and disorders of sexual development (DSD). Although the identification of chromosomal abnormalities or chromosomal aberrations (CAs) is crucial for the diagnosis of these conditions, the assessment of CAs in these disorders remains unclear, and few large-scale studies have been conducted at multiple centers. The aim of the current study was to systematically evaluate the prevalence of CAs in CHD, hypospadias, cryptorchidism, and DSD. Studies reporting CAs in these birth defects were retrospectively analyzed from 1991- 2023, using online databases such as PubMed and Google scholar as well as preprints and references from related literature. Comprehensive screening, data acquisition, and systematic assessments of the identified literature were performed. Ultimately, searches yielded a total of 7,356 samples from 14 published articles on CHD, 298 hypospadias cases from 4 published articles, 1,681 cryptorchidism cases from 4 published articles, and 2,876 DSD cases from 7 published articles. Carrier rates of CAs varied widely among these studies and conditions. A retrospective analysis revealed that CHD was associated with the highest carrier rate (26%) for CAs, followed by DSD (21%), hypospadias (9%), and cryptorchidism (5%). A subtype analysis of CAs indicated a higher prevalence of numerical abnormalities among the reported cases. Therefore, considering CAs in birth defects associated with infertility is imperative. This provides a foundation for the further clinical implementation of chromosomal screening and enhancing high-risk screening for individuals in the real world.
先前的研究表明，某些出生缺陷（包括先天性心脏病（CHD）、尿道下裂、隐睾症和性发育障碍（DSD））患者的不孕风险会升高。虽然染色体异常或染色体畸变（CAs）的识别对于这些疾病的诊断至关重要，但这些疾病中CAs的评估仍不明确，且很少有在多个中心开展的大规模研究。本研究的目的是系统评估CHD、尿道下裂、隐睾症和DSD中CAs的患病率。我们使用PubMed和谷歌学术等在线数据库以及预印本和相关文献的参考文献，对1991年至2023年期间报告这些出生缺陷中CAs的研究进行了回顾性分析。对识别出的文献进行了全面筛选、数据采集和系统评估。最终，检索共得到14篇关于CHD的已发表文章中的7356个样本、4篇已发表文章中的298例尿道下裂病例、4篇已发表文章中的1681例隐睾症病例以及7篇已发表文章中的2876例DSD病例。这些研究和疾病中CAs的携带率差异很大。一项回顾性分析显示，CHD的CAs携带率最高（26%），其次是DSD（21%）、尿道下裂（9%）和隐睾症（5%）。CAs的亚型分析表明，报告病例中数字异常的患病率更高。因此，必须考虑与不孕相关的出生缺陷中的CAs。这为染色体筛查的进一步临床应用以及在现实世界中加强对个体的高危筛查提供了基础。
