产前查微切除和罕见的自体形形状
Desiree Fiorentino1, Pe'er Dar
1Division of Fetal Medicine, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York.
Clinical obstetrics and gynecology
|July 13, 2023
概括
使用无细胞DNA的非侵入性产前查,现在可以检测出超出常见形状的罕见遗传疾病. 本综述审查了检测微删除和复制数变异的性能数据,以告知医学社会的指导方针.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 产前诊断 在产前诊断
背景情况:
- 使用无细胞DNA (cfDNA) 的非侵入性产前查 (NIPS) 是检测常见的胎儿形瘤的主要方法.
- 实验室的进步使得通过cfDNA对整个胎儿基因组进行审讯.
- 商业实验室越来越多地为罕见的自体形积分病和复制数变异 (CNV) 提供扩展面板.
研究的目的:
- 审查目前关于cfDNA查罕见自体形形状瘤的性能数据.
- 为了评估与微删除和微复制综合征相关的CNVs的cfDNA查.
- 总结一下医疗协会对这些疾病的常规查的当前立场.
主要方法:
- 对评估cfDNA对罕见动脉增生和CNVs的性能研究的文献综述.
- 对检测率和临床意义数据的分析.
- 检查医学协会的指导方针和建议.
主要成果:
- 关于特定罕见的自体形动脉增生和CNVs的cfDNA查性能的数据正在积累.
- 通过cfDNA进行微删除和微复制综合征的查显示了可变但有希望的结果.
- 医学界对这些较罕见疾病的常规查的建议仍在不断发展.
结论:
- 扩展的cfDNA查面板为检测更广泛的胎儿遗传异常提供了潜力.
- 需要进一步的研究和标准化,以优化对罕见的动脉增生和CNVs的cfDNA查.
- 扩展NIPS的临床实用性和成本效益需要持续评估和指导方针的制定.
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