系统分析和评估与不孕症有关的主要出生缺陷中的染色体畸变。

IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL
Fuying Lan, Zhongzhong Chen, Xiaoling Lin
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引用次数: 0

摘要

以往的研究表明,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))会增加不育的风险。虽然染色体异常或染色体畸变(CA)的鉴定对这些疾病的诊断至关重要,但对这些疾病中 CA 的评估仍不明确,而且很少有在多个中心进行的大规模研究。本研究旨在系统评估CAs在CHD、尿道下裂、隐睾症和DSD中的患病率。研究人员利用PubMed和Google scholar等在线数据库以及相关文献的预印本和参考文献,回顾性分析了1991-2023年间报道这些出生缺陷中CAs的研究。对已识别的文献进行了全面筛选、数据采集和系统评估。最终,共检索到 14 篇已发表的 CHD 文献中的 7356 个样本、4 篇已发表的文献中的 298 个尿道下裂病例、4 篇已发表的文献中的 1681 个隐睾病例以及 7 篇已发表的文献中的 2876 个 DSD 病例。在这些研究和病症中,CA 的携带率差异很大。一项回顾性分析显示,CHD与最高的CA携带率(26%)相关,其次是DSD(21%)、尿道下裂(9%)和隐睾症(5%)。对 CAs 的亚型分析表明,在报告的病例中,数字异常的发病率较高。因此,必须考虑与不孕症相关的出生缺陷中的 CAs。这为进一步在临床上开展染色体筛查和加强现实世界中的个人高风险筛查奠定了基础。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Systematic analysis and evaluation of chromosome aberrations in major birth defects associated with infertility.

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.

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来源期刊
Intractable & rare diseases research
Intractable & rare diseases research MEDICINE, GENERAL & INTERNAL-
CiteScore
2.10
自引率
0.00%
发文量
29
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