囊性纤维化下一代测序:佛罗里达州新生儿查经验
Deanna M Green1, Jean Polasky1, Mark Weatherly2
1Division of Pediatric Pulmonology and Cystic Fibrosis, Johns Hopkins All Children's Hospital, St. Petersburg, FL 33701, USA.
International journal of neonatal screening
|October 24, 2025
概括
佛罗里达州 佛罗里达州 佛罗里达州 佛罗里达州
科学领域:
- 医学遗传学 医学遗传学
- 新生儿查 新生儿查
- 基因检测 基因检测 基因检测
背景情况:
- 囊性纤维化 (CF) 是一种影响新生儿的遗传性疾病.
- 新生儿查 (NBS) 有助于早期诊断和治疗CF.
- 佛罗里达州在2022年通过下一代测序 (NGS) 增强了其CF NBS计划.
研究的目的:
- 评估在佛罗里达州的囊性纤维化新生儿查计划中实施增强下一代测序 (NGS) 的影响.
- 评估变种识别,转诊率和CF病例检测的变化.
- 识别来自代表性不足的群体中具有罕见或de novo CFTR 变异的个体.
主要方法:
- 实施了扩展的Agena 74变体面板和NGS用于第二层和第三层CF NBS测试.
- 在NGS实施之前和之后 (2019-2024) 分析了转诊数据和CF病例识别率.
- 将CF诊断与囊性纤维化相关代谢综合征/CF查阳性,不确定的诊断 (CRMS/CFSPID) 病例进行比较.
主要成果:
- 在NGS实施后,CF NBS中心的转诊量几乎增加了三倍,其中大多数是单个变体不太可能导致CF.
- 确诊的CF病例数量保持稳定,而CRMS/CFSPID病例显著增加.
- 国家统计系统的实施增加了CFTR变体的识别,导致更高的工作量和转介.
结论:
- 佛罗里达州CF NBS计划的增强NGS增加了变体检测和转诊,特别是在CF可能性较低的单个变体.
- 患CRMS/CFSPID病例的增加表明与复杂的异合体变异有关,而不是异常的汗水测试.
- 建议包括完善NBS算法和处理单变体结果,以优化医疗保健利用率,避免不必要的转诊.
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