在印度东部的一个省份进行新生儿查:从一个勃发展的新生儿查单位的流行率和趋势
Gautom Kumar Saharia1, Saurav Nayak2, Manaswini Mangaraj2
1Newborn Screening Unit, Department of Biochemistry, All India Institute of Medical Sciences (AIIMS), Bhubaneswar, Odisha 751019, India.
Journal of tropical pediatrics
|February 1, 2026
概括
印度新生儿查显示,遗传性疾病的患病率为10.2%,其中部分生物丁酶和G6PD缺陷是最常见的. 这凸显了国家新生儿查计划的必要性,以应对这些情况.
科学领域:
- 医学遗传学 医学遗传学
- 儿科 儿科 儿科
- 公共卫生 公共卫生
背景情况:
- 新生儿查在印度是欠发达的,原因是资源有限,健康信息的缺乏和后勤挑战.
- 关于东印度新生儿遗传性疾病患病率的数据有限.
研究的目的:
- 通过实验室记录,评估东印度新生儿中五种关键遗传性疾病的患病率.
- 提供数据支持国家新生儿查计划的实施.
主要方法:
- 从一个新生儿查单位的干血斑 (DBS) 实验室电子记录的回顾性分析.
- 分析包括查G6PD缺乏,先天性上腺增生,新生儿甲状腺功能低下症,生物丁酶缺乏和银血症.
- 研究人口包括3210名新生儿.
主要成果:
- 遗传性疾病的总体患病率为10.2%,其中0.4%患有两种疾病.
- 部分生物丁酶缺乏 (4.5%) 和G6PD缺乏 (2.7%) 是最常见的疾病.
- 与女性相比,男性的G6PD和生物酶缺乏的可能性更高.
结论:
- 印度东部的G6PD缺乏症和其他严重的新生儿疾病的流行率很高.
- 这些发现提倡在国家一级开展新生儿查,以识别和管理这些疾病.
- 需要进一步的研究来解决实施障碍,并确保公平获得查计划.
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