Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.

IF 4 Q1 GENETICS & HEREDITY
Tala Jamaleddin, Karen El-Akouri, Sumaya Abiib, Rola Mitri, Mamatha Ramaswamy, Sara Musa, Rehab Ali, Noora Shahbeck, Hilal Al Rifai, Ghassan Abdoh, Tawfeg Ben-Omran, Osama Y Al-Dirbashi, Mashael Al-Shafai
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Abstract

Background: Newborn screening is an essential public health strategy that aims to detect a range of conditions, including inborn errors of metabolism, in neonates shortly after birth. The timely identification is crucial due to the asymptomatic nature of many conditions at birth, but which can lead to significant health complications if left untreated. Through this study, we aimed to investigate the incidence of IEMs screened by the Qatar National Newborn Screening Program.

Methods: We retrospectively analyzed a total of 351,223 newborns screened from 2010 to 2023. The incidence for the studied IEMs was calculated and correlated with demographics, consanguinity, and family history. In addition, the diagnostic yield of different tests utilized was assessed.

Results: Our study revealed a total of 318 positive cases with IEMs, and a significantly high incidence of 1:1105 for IEMs in Qatar. Classical Homocystinuria was the most frequently detected condition, with a cumulative incidence of 1:6754 live births, linked to the founder variant p. Arg336Cys in the CBS gene. Aminoacidopathies were the most prevalent category, followed by fatty acid oxidation disorders, organic acidurias, biotinidase deficiency, and urea cycle disorders. Genetic testing showed a high diagnostic yield of 90%. Of the 60 cases that underwent targeted variant testing, 98% were confirmed, while 90% of the 59 cases tested by single gene testing were confirmed.

Conclusions: Our study provides the incidence rates of IEMs in Qatar and novel insights that could facilitate setting up/developing IEM incidence-reducing strategies and improving outcomes for affected newborns and their families.

卡塔尔国家扩大代谢新生儿筛查计划:发病率和结果。
背景:新生儿筛查是一项重要的公共卫生战略,旨在发现新生儿出生后不久出现的一系列疾病,包括先天性代谢错误。由于许多疾病在出生时无症状,及时识别是至关重要的,但如果不及时治疗,可能导致严重的健康并发症。通过本研究,我们旨在调查卡塔尔国家新生儿筛查计划筛查的IEMs发生率。方法:回顾性分析2010年至2023年筛查的351223例新生儿。计算了所研究的IEMs的发病率,并将其与人口统计学、血缘关系和家族史相关联。此外,还评估了不同检测方法的诊断率。结果:本研究共发现318例IEMs阳性病例,卡塔尔IEMs的发病率为1:11 . 05。经典同型半胱氨酸尿是最常检测到的疾病,其累计发生率为1:67 . 54活产,与CBS基因的创始变异p. Arg336Cys有关。氨基酸病是最常见的类型,其次是脂肪酸氧化障碍、有机酸尿症、生物素酶缺乏症和尿素循环障碍。基因检测显示诊断率高达90%。在60例接受靶向变异检测的病例中,98%得到确诊,而在59例接受单基因检测的病例中,90%得到确诊。结论:我们的研究提供了卡塔尔IEM的发病率和新的见解,可以促进建立/发展IEM发病率降低策略和改善受影响新生儿及其家庭的结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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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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