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第2章:非侵入性的产前诊断
Stephanie K Allen1, Samantha Doyle2
1Birmingham Women's and Children's NHS Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2TG, UK.
Best practice & research. Clinical obstetrics & gynaecology
|September 10, 2024
概括
非侵入性产前诊断 (NIPD) 使用来自母亲血液的无细胞胎儿DNA进行遗传检测. 这种快速,灵敏的方法有助于在怀孕期间在没有侵入性程序的情况下诊断单基性疾病.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 产前医学产前医学
背景情况:
- 非侵入性产前诊断 (NIPD) 在临床环境中越来越多地用于单一性疾病.
- 它涉及从母体血中分析无细胞胎儿DNA (cfDNA),这是由于度低和母胎混合起源而具有挑战性的.
研究的目的:
- 审查NIPD对单基性疾病的现状和未来前景.
- 突出快速,敏感和特定的诊断方法的必要性.
主要方法:
- 实时PCR可以实现.
- 数字PCR是数字的PCR.
- 以复杂的算法进行下一代测序.
主要成果:
- 尼普德正在成为一种诊断工具,特别是在具有增加风险或超声波异常的怀孕中.
- 通过侵入性测试进行确认通常不需要NIPD结果.
结论:
- 在日常护理中,NIPD的整合正在扩大.
- 基因组技术的进步可能会增加对NIPD在产前诊断中的需求和应用.
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