基因检测对妊娠年龄较小的婴儿的作用
Eric Kalimi1, Emily Zhao2, Brittany Wise-Oringer3
1Harvard University, Cambridge, MA, USA.
概括
遗传性疾病在很大程度上导致婴儿出生时比妊娠年龄小 (SGA),经常出现先天性异常. 基因组测序对于早期诊断和SGA病例的量身定制治疗至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 新生儿科学 新生儿科学
背景情况:
- 对于妊娠年龄 (SGA) 出生的婴儿患病率,死亡率和长期健康问题的风险更高.
- 虽然已知胎盘和环境因素是导致SGA的因素,但遗传疾病在SGA病因中的作用越来越被认可.
- 现有的SGA遗传评估是有限的,需要对遗传贡献有更广泛的理解.
研究的目的:
- 综合审查关于小代孕年龄 (SGA) 和胎儿生长限制 (FGR) 的基因组测序的文献.
- 确定与SGA相关的遗传疾病,并评估它们对这种疾病的贡献.
- 为了为SGA婴儿的遗传评估提供临床指南.
主要方法:
- 对涉及SGA和FGR队列中的基因组测序研究的系统文献综述.
- 分析已识别的单基因疾病及其患病率.
- 遗传发现与临床表型的相关性,包括先天性异常和发育迟缓.
主要成果:
- 一项审查确定了161种与SGA和FGR相关的单基因疾病.
- 十大基因占确诊的遗传病例的三分之一,其中一半的病例归因于独特的遗传变异.
- 在SGA婴儿中,遗传性疾病经常与先天性异常,特别是骨发育不良和发育迟缓有关.
结论:
- 遗传因素在SGA的病因学中起着重要作用,通常具有综合征特征.
- 目前对SGA的遗传评估指南是不够的.
- 对于SGA婴儿,特别是具有先天性异常或发育迟缓的婴儿,应强烈考虑外基因组或基因组测序,以实现及时诊断和管理.
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