沙特阿拉伯卫生部利雅得第二卫生组 40965 名新生儿先天性代谢异常和内分泌失调的发病率。

IF 4 Q1 GENETICS & HEREDITY
Abdullah S Alshehri, Abdul A Peer-Zada, Abeer A Algadhi, Abdulwahed Aldehaimi, Mohammed A Saleh, Aziza M Mushiba, Eissa A Faqeih, Ali M AlAsmari
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引用次数: 0

摘要

先天性代谢错误(IEM)和内分泌失调是沙特人口中常见的遗传疾病,其发病率往往被低估。新生儿筛查(NBS)使用各种疾病面板,是早期发现和干预 IEM 高风险婴儿的第一道防线。在此,我们旨在评估筛查疾病的发病率,并概述法赫德国王医疗城卫生部三级医疗机构的 NBS 项目。我们对出生后第二天采集的 40965 名新生儿的干血斑(DBS)进行了分析,共筛查出 20 种疾病。10 年间,阳性筛查("重复")样本总数约为 1%(n = 382/40965)。真阳性结果率为 15.3%(n = 46/301),个别疾病的重复率从 0.26%(95% CI,0.17-0.69)到 2.6%(95% CI,2.19-3.05)不等。假阳性结果率为 84.7%(n = 255/301),其中生物素酶活性是导致第二个样本重复的最常见原因。所筛查疾病的总体发病率为 1:891(95% CI,11.61-12.47)。在内分泌疾病中,CH 和 CAH 的发病率最高,为 1:4097 (95% CI, 2.19-3.05);在 IEM 中,PA 和 ASA 的发病率为 1:10,241 (95% CI, 0.09-0.95)。总之,我们提供了有关沙特人口中各种 IEM 和内分泌失调症发病率的最新数据和经验,强调了生物素酶活性假阳性结果的作用,这种假阳性结果会增加召回率并导致高估发病率数据,我们还建议开展多中心研究,以成功实施国家 NBS 计划。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia.

Inborn errors of metabolism (IEM) and endocrine disorders are common genetic conditions in the Saudi population with the incidence rate often underestimated. Newborn screening (NBS) using various disease panels provides the first line in the early detection and intervention among infants with a high risk of IEM. Here we aim to assess the incidence of screening disorders and provide an overview of the NBS program at the Ministry of Health Tertiary Care King Fahad Medical City. Dried blood spots (DBS) from 40,965 newborn infants collected on the second day after birth were analyzed for 20 disorders. The total number of positive screen ("repeat") samples over 10 years was about 1% (n = 382/40,965). The true positive result rate was 15.3% (n = 46/301) with the recall rates of individual disorders ranging from 0.26% (95% CI, 0.17-0.69) to 2.6% (95% CI, 2.19-3.05). The false positive result rate was 84.7% (n = 255/301) with biotinidase activity found to be the most common cause of the second sample repeat. The overall incidence of the screened diseases was 1:891 (95% CI, 11.61-12.47). CH and CAH are the most prevalent among endocrine disorders with an incidence of 1:4097 (95% CI, 2.19-3.05), and PA and ASA among the IEM with an incidence of 1:10,241 (95% CI, 0.09-0.95). In summary, we provide updated data and our experience on the incidence of various IEM and endocrine disorders among the Saudi population, highlight the role of false positive results of biotinidase activity that can increase the recall rate and lead to overestimation of the incidence data, and recommend multicenter studies to achieve a successful national NBS program.

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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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