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系统分析和评估与不孕症相关的重大出生缺陷中的染色体异常

Fuying Lan¹, Zhongzhong Chen^1,2, Xiaoling Lin¹

¹Department of Urology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Intractable & rare diseases research

|February 26, 2024

概括

染色体异常 (CA) 在与不孕症相关的出生缺陷中很常见,先天性心脏病 (CHD) 患病率最高. 这凸显了对受影响个体进行染色体查的需要.

科学领域:

医学遗传学医学遗传学
生殖医学生殖医学
儿童心脏病学儿童心脏病学

背景情况:

不孕症是已知的风险在先天性心脏病 (CHD),hypospadias,cryptorchidism和性发育障碍 (DSD) 等出生缺陷.
在这些条件下评估染色体异常 (CA) 对诊断至关重要,但缺乏全面的多中心研究.

研究的目的:

系统地评估患有心脏病,缺血症,密码症和DSD的个体中的染色体异常 (CA) 的患病率.
分析这些特定的出生缺陷中的载体率和CA类型.

主要方法:

对1991年至2023年间发表的研究进行了回顾性分析.
包括来自PubMed,谷歌学者,预版和相关文献的数据.
系统的查,数据采集和评估7356个CHD,298个hypospadias,1681个cryptorchidism和2876个DSD病例.

主要成果:

先天性心脏病 (CHD) 呈现出最高的CA携带者率 (26%),其次是DSD (21%),hypospadias (9%) 和cryptorchidism (5%).
数字异常是发现的CA最常见的亚型.
在不同的条件和研究中观察到CA载体率的显著变化.

结论:

染色体异常与可能导致不孕症的出生缺陷有显著关联.
染色体查的临床实施对于患有这些疾病的高风险个体至关重要.
这项研究为改善出生缺陷中CA的临床查策略提供了基础.

关键词:

出生缺陷产生的缺陷染色体异常是一种染色体异常.不孕不育不孕不育不孕不育

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