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Updated: Jul 19, 2026

07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
罕见的先天性疾病,印制基因和辅助生殖技术
Roger Gosden1, Jacquetta Trasler, Diana Lucifero
1The Jones Institute for Reproductive Medicine, Eastern Virginia Medical School, Norfolk, VA 23507, USA. gosdenrg@evms.edu <gosdenrg@evms.edu>
Lancet (London, England)
|June 13, 2003
概括
辅助生殖技术 (ART) 可能会增加儿童罕见印记障碍的风险,如贝克威思-维德曼综合征. 需要进一步的前性研究来监测ART的安全性,并调查表观遗传异常.
科学领域:
- 生殖医学 生殖医学
- 发育生物学 发展生物学
- 遗传学 是一个遗传学.
背景情况:
- 辅助生殖技术 (ART) 已经改变了不孕症治疗,体外受精 (IVF) 服务在全球范围内不断扩大.
- 虽然通常是安全的,但随着协议的发展,对ART的持续监测至关重要.
- 最近的研究表明,ARTs与贝克威思-维德曼综合征 (BWS) 发病率增加之间存在潜在联系.
研究的目的:
- 为了强调贝克威思-维德曼综合征 (BWS) 在通过ART怀孕的儿童中意外高的发病率.
- 为了与先前的发现,将ART与安吉尔曼综合征 (另一种印记障碍) 联系起来,并行.
- 强调需要对 ART 孕育的儿童进行持续监测.
主要方法:
- 对最近的研究和关于贝克威思-维德曼综合征 (BWS) 在ART怀孕儿童中的发病率的注册数据的审查.
- 在ART受孕人口中,BWS频率与这种罕见疾病的已知率的比较.
- 与之前关于安吉尔曼综合征和ARTs的报告相关的发现分析.
主要成果:
- 多项研究报告说,在通过ART怀孕的儿童中,贝克威思-维德曼综合征 (BWS) 的发生率显著增加.
- 在ART队伍中观察到的BWS频率对于这种罕见的先天性疾病来说非常高.
- 这些发现表明ART与印记障碍之间的潜在关联.
结论:
- 持续前性,多中心监测ART怀孕的儿童是必不可少的.
- 监测应包括出生缺陷,发育结果和癌症发病率.
- 未来的研究必须包括表观遗传异常的分子特征,特别是印记控制区域的甲基化状态.
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