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Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy 从多名儿童确诊为杜兴氏肌肉萎缩症的家长角度评估早期诊断的利弊
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2024-04-15 DOI: 10.3390/ijns10020032
Oindrila Bhattacharyya, Nicola B Campoamor, Niki Armstrong, Megan Freed, Rachel Schrader, Norah L. Crossnohere, John F P Bridges
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child’s diagnosis. We assessed parents’ viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience. We analyzed closed-ended responses on a −1.0 to +1.0 scale to measure the degree of harm or benefit parents perceived and analyzed open-ended responses thematically. A total of 45 parents completed the survey, with an average age of 43.5 years and 20.0% identifying as non-white. Younger siblings were diagnosed 2 years earlier on average (p < 0.001). Overall, parents viewed early diagnosis positively (mean: 0.39), particularly regarding school preparedness (+0.79), support services (+0.78), treatment evaluation (+0.68), and avoiding diagnostic odyssey (+0.67). Increased worry was a common downside (−0.40). Open-ended responses highlighted improved outlook and health management alongside heightened emotional distress and treatment burdens. These findings address gaps in the evidence by documenting the effectiveness of early screening and diagnosis of DMD using sibling data.
杜兴氏肌营养不良症(DMD)是一种罕见的神经肌肉疾病,在儿童时期就可确诊。美国有限的新生儿筛查常常延误诊断。美国食品及药物管理局批准了多种疗法,早期诊断对于及时治疗至关重要,但也可能带来其他益处和危害。通过一项基于社区的调查,我们探讨了患有 DMD 的兄弟姐妹的父母是如何看待因其先前的孩子被诊断出患有 DMD 而对其进行早期诊断的。我们评估了父母在诊断过程、治疗措施、服务获取、准备、养育、情感影响和护理经验等方面的观点。我们对封闭式回答进行了-1.0 到 +1.0分级分析,以衡量家长认为的危害或益处程度,并对开放式回答进行了专题分析。共有 45 位家长完成了调查,平均年龄为 43.5 岁,20.0% 的家长为非白人。年龄较小的兄弟姐妹被诊断的时间平均提前了 2 年(p < 0.001)。总体而言,家长对早期诊断持积极态度(平均值:0.39),尤其是在学校准备(+0.79)、支持服务(+0.78)、治疗评估(+0.68)和避免诊断奥德赛(+0.67)方面。忧虑增加是一个常见的不利因素(-0.40)。开放式回答强调,在情绪困扰和治疗负担加重的同时,前景和健康管理也得到了改善。这些研究结果利用同胞数据记录了 DMD 早期筛查和诊断的有效性,填补了证据方面的空白。
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引用次数: 0
International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis 扩展基因测序作为新生儿筛查的一部分用于识别囊性纤维化的国际视角
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2024-04-08 DOI: 10.3390/ijns10020031
Corinna C. A. Clark, Pru Holder, F. Boardman, L. Moody, Jacqui Cowlard, Lorna Allen, Claire Walter, James R. Bonham, J. Chudleigh
There is increasing interest in using extended genetic sequencing (EGS) in newborn screening (NBS) for cystic fibrosis (CF). How this is implemented will change the number of children being given an uncertain outcome of CRMS/CFSPID (cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/CF Screen Positive Inconclusive Diagnosis), probable carrier results, and the number of missed CF diagnoses. An international survey of CF health professionals was used to gather views on two approaches to EGS—specific (may reduce detection of CRMS/CFSID but miss some CF cases) versus sensitive (may increase detection of CRMS/CFSPID but avoid missing more CF cases). Health professionals acknowledged the anxiety caused to parents (and health professionals) from the uncertainty surrounding the prognosis and management of CRMS/CFSPID. However, most preferred the sensitive approach, as overall, identifying more cases of CRMS/CFSPID was viewed as less physically and psychologically damaging than a missed case of CF. The importance of early diagnosis and treatment for CF to ensure better health outcomes and reducing diagnostic odysseys for parents were highlighted. A potential benefit to identifying more children with CRMS/CFSPID included increasing knowledge to obtain a better understanding of how these children should best be managed in the future.
在囊性纤维化(CF)新生儿筛查(NBS)中使用扩展基因测序(EGS)越来越受到关注。如何实施这一方法将改变CRMS/CFSPID(囊性纤维化跨膜传导调节器(CFTR)相关代谢综合征/CF筛查阳性不确定诊断)结果不确定的儿童人数、可能的携带者结果以及漏诊的CF人数。通过对 CF 医疗专业人员进行国际调查,收集了他们对 EGS 特异性(可能会减少 CRMS/CFSID 的检出率,但会漏诊一些 CF 病例)和敏感性(可能会增加 CRMS/CFSPID 的检出率,但会避免漏诊更多 CF 病例)两种方法的看法。医疗专业人员承认,CRMS/CFSPID 的预后和管理的不确定性给家长(和医疗专业人员)造成了焦虑。然而,大多数人倾向于采用敏感的方法,因为总体而言,发现更多 CRMS/CFSPID 病例比漏诊 CF 病例造成的身心伤害要小。强调了早期诊断和治疗 CF 的重要性,以确保更好的健康结果,并减少家长的诊断误区。发现更多 CRMS/CFSPID 儿童的潜在益处包括增加知识,从而更好地了解今后应如何对这些儿童进行最佳管理。
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引用次数: 0
Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress 新生儿筛查的今天与明天:国际原发性免疫缺陷大会简要报告
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2024-04-05 DOI: 10.3390/ijns10020030
Leire Solís, Samya Van Coillie, James R. Bonham, Fabian Hauck, Lennart Hammarström, F. J. Staal, Bruce Lim, Martine Pergent, Johan Prévot
This article presents the report of the session on “Newborn Screening for Primary Immunodeficiencies—Now What?” organised during the International Primary Immunodeficiency Congress (IPIC) held in November 2023. This clinical conference was organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), the global patient organisation advocating for primary immunodeficiencies (PIDs) in patients. The session aimed at exploring the advances in newborn screening (NBS) for severe combined immunodeficiency, starting with the common practice and inserting the discussion into the wider perspective of genomics whilst taking into consideration the ethical aspects of screening as well as incorporating families and the public into the discussions, so as to ensure that NBS for treatable rare disorders continues to be one of the major public health advances of the 20th century.
本文介绍了在 2023 年 11 月举行的国际原发性免疫缺陷大会(IPIC)期间组织的 "原发性免疫缺陷新生儿筛查--现在怎么办?这次临床会议由国际原发性免疫缺陷患者组织(IPOPI)主办,该组织是一个倡导原发性免疫缺陷患者的全球性患者组织。会议旨在探讨新生儿重症联合免疫缺陷筛查(NBS)的进展,从常见做法入手,将讨论引入更广泛的基因组学视角,同时考虑到筛查的伦理问题,并将家庭和公众纳入讨论,以确保针对可治疗罕见疾病的 NBS 继续成为 20 世纪公共卫生领域的重大进展之一。
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引用次数: 0
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review 超长链乙酰辅酶脱氢酶缺乏症(VLCAD Deficiency)的管理与疗效:病历回顾
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2024-03-30 DOI: 10.3390/ijns10020029
Maria Al Bandari, L. Nagy, Vivian Cruz, S. Hewson, Alomgir Hossain, Michal Inbar-Feigenberg
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic condition affecting the mitochondrial beta-oxidation of long-chain fatty acids. This study reports on the clinical outcomes of patients diagnosed by newborn screening with VLCAD deficiency comparing metabolic parameters, enzyme activities, molecular results, and clinical management. It is a single-center retrospective chart review of VLCAD deficiency patients who met the inclusion criteria between January 2002 and February 2020. The study included 12 patients, 7 of whom had an enzyme activity of more than 10%, and 5 patients had an enzyme activity of less than 10%. The Pearson correlation between enzyme activity and the C14:1 level at newborn screening showed a p-value of 0.0003, and the correlation between enzyme activity and the C14:1 level at diagnosis had a p-value of 0.0295. There was no clear correlation between the number of documented admissions and the enzyme activity level. Patients who had a high C14:1 value at diagnosis were started on a diet with a lower percentage of energy from long-chain triglycerides. The C14:1 result at diagnosis is the value that has been guiding our initial clinical management in asymptomatic diagnosed newborns. However, the newborn screening C14:1 value is the most sensitive predictor of low enzyme activity and may help guide dietary management.
极长链酰基-CoA脱氢酶(VLCAD)缺乏症是一种罕见的遗传病,会影响长链脂肪酸的线粒体β-氧化。本研究报告了通过新生儿筛查确诊为 VLCAD 缺乏症患者的临床结果,并对代谢参数、酶活性、分子检测结果和临床治疗进行了比较。该研究是对 2002 年 1 月至 2020 年 2 月期间符合纳入标准的 VLCAD 缺乏症患者进行的单中心回顾性病历审查。研究共纳入 12 名患者,其中 7 名患者的酶活性超过 10%,5 名患者的酶活性低于 10%。酶活性与新生儿筛查时的 C14:1 水平之间的皮尔逊相关性显示 p 值为 0.0003,酶活性与诊断时的 C14:1 水平之间的相关性显示 p 值为 0.0295。有记录的入院次数与酶活性水平之间没有明显的相关性。诊断时 C14:1 值较高的患者开始食用长链甘油三酯能量比例较低的饮食。诊断时的 C14:1 结果是指导我们对无症状确诊新生儿进行初步临床管理的数值。不过,新生儿筛查 C14:1 值是预测酶活性低的最灵敏指标,有助于指导饮食管理。
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引用次数: 0
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry 下一代测序结合串联质谱法筛查新生儿先天性代谢异常
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2024-03-29 DOI: 10.3390/ijns10020028
Cheng-fang Tang, Lixin Li, Ting Chen, Yulin Li, Bo Zhu, Yinhong Zhang, Yifan Yin, Xiulian Liu, Cidan Huang, Jingkun Miao, Baosheng Zhu, Xiaohua Wang, Hui Zou, Lianshu Han, Jizhen Feng, Yonglan Huang
The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a multicenter study of 29,601 newborns from eight screening centers with NBS via NGS combined with MS/MS. A custom-designed panel targeting the coding region of the 142 genes of 128 inborn errors of metabolism (IEMs) was applied as a first-tier screening test, and expanded NBS using MS/MS was executed simultaneously. In total, 52 genes associated with the 38 IEMs screened by MS/MS were analyzed. The NBS performance of these two methods was analyzed and compared respectively. A total of 23 IEMs were diagnosed via NGS combined with MS/MS. The incidence of IEMs was approximately 1 in 1287 patients. Within separate statistical analyses, the positive predictive value (PPV) for MS/MS was 5.29%, and the sensitivity was 91.3%. However, for genetic screening alone, the PPV for NGS was 70.83%, with 73.91% sensitivity. The three most common IEMs were methylmalonic academia (MMA), primary carnitine deficiency (PCD) and phenylketonuria (PKU). The five genes with the most common carrier frequencies were PAH (1:42), PRODH (1:51), MMACHC (1:52), SLC25A13 (1:55) and SLC22A5 (1:63). Our study showed that NBS combined with NGS and MS/MS improves the performance of screening methods, optimizes the process, and provides accurate diagnoses.
本研究的目的是通过使用下一代测序(NGS)作为一级筛查检验并结合串联质谱法(MS/MS),观察特定人群中新生儿筛查(NBS)的结果。我们对来自八个筛查中心的 29,601 名新生儿进行了一项多中心研究,通过 NGS 结合 MS/MS 进行了 NBS 筛查。作为一级筛查测试,我们采用了一个定制设计的面板,目标是 128 个先天性代谢错误(IEMs)的 142 个基因的编码区,并同时使用 MS/MS 进行了扩大的 NBS。总共分析了与 MS/MS 筛选出的 38 种 IEM 相关的 52 个基因。分别对这两种方法的 NBS 性能进行了分析和比较。通过 NGS 结合 MS/MS 共诊断出 23 例 IEM。IEM 的发病率约为 1287 例患者中的 1 例。在单独的统计分析中,MS/MS 的阳性预测值 (PPV) 为 5.29%,灵敏度为 91.3%。然而,仅就基因筛查而言,NGS 的 PPV 为 70.83%,灵敏度为 73.91%。最常见的三种 IEM 是甲基丙二酸血症(MMA)、原发性肉碱缺乏症(PCD)和苯丙酮尿症(PKU)。携带频率最高的五个基因是 PAH(1:42)、PRODH(1:51)、MMACHC(1:52)、SLC25A13(1:55)和 SLC22A5(1:63)。我们的研究表明,NBS 与 NGS 和 MS/MS 的结合提高了筛查方法的性能,优化了流程,并提供了准确的诊断。
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引用次数: 0
Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows 推进新生儿筛查的长期随访:整合基于 Epic 的登记簿、仪表板和高效工作流程
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2024-03-25 DOI: 10.3390/ijns10020027
Katherine Raboin, Debra Ellis, Ginger Nichols, Marcia Hughes, Michael Brimacombe, Karen Rubin
The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS patients. After launching the LTFU registry in 2019, the Network obtained funding from the Health Resources and Services Administration to address the slow adoption by specialty care teams. An LTFU model was implemented in the three highest-volume specialty care teams at Connecticut Children’s, involving an early childhood cohort diagnosed with an NBS-identified disorder since the formation of the Network in March 2019. This cohort grew from 87 to 115 over the two-year project. Methods included optimizing registries, capturing external data from Health Information Exchanges, incorporating evidence-based guidelines, and conducting qualitative and quantitative evaluations. The early childhood cohort demonstrated significant and sustainable improvements in the percentage of visits up-to-date (%UTD) compared to the non-intervention legacy cohort of patients diagnosed with an NBS disorder before the formation of the Network. Positive trends in the early childhood cohort, including %UTD for visits and condition-specific performance metrics, were observed. The qualitative evaluation highlighted the achievability of practice behavior changes for specialty care teams through responsive support from the nurse analyst. The Network’s model serves as a use case for applying and achieving the adoption of population health tools within an EHR system to track care delivery and quickly fill identified care gaps, with the aim of improving long-term health for NBS patients.
康涅狄格州新生儿筛查(NBS)网络与康涅狄格州公共卫生部合作,战略性地利用 Epic 电子健康记录(EHR)系统建立登记册,以跟踪 NBS 患者的长期随访(LTFU)情况。在 2019 年启动 LTFU 登记处后,该网络获得了卫生资源与服务管理局的资助,以解决专科护理团队采用该登记处缓慢的问题。自 2019 年 3 月网络成立以来,康涅狄格儿童医院在三个人数最多的专科护理团队中实施了 LTFU 模式,涉及到被诊断患有 NBS 确定疾病的幼儿队列。在为期两年的项目中,该队列从 87 人增至 115 人。方法包括优化登记册、从健康信息交换中心获取外部数据、纳入循证指南以及进行定性和定量评估。与网络成立前诊断出患有 NBS 疾病的非干预传统队列相比,幼儿队列在最新就诊百分比(%UTD)方面取得了显著且可持续的改善。在幼儿组群中观察到了积极的趋势,包括就诊和特定病症绩效指标的最新就诊百分比(%UTD)。定性评估强调了专科护理团队通过护士分析师的响应支持实现实践行为改变的可能性。该网络的模式可作为在电子病历系统中应用和采用人口健康工具的使用案例,以跟踪护理服务的提供情况并迅速弥补已发现的护理差距,从而改善 NBS 患者的长期健康状况。
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引用次数: 0
Postponement of the Newborn Hearing Screening during the COVID-19 Pandemic; Parental Experiences and Worries 在 COVID-19 大流行期间推迟新生儿听力筛查;家长的经历和担忧
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2024-03-21 DOI: 10.3390/ijns10010026
Rosanne B. van der Zee, Sanne L. Peet, N. Uilenburg, H. J. A. van Bakel, E. Dirks
Early identification of hearing loss through newborn hearing screening followed by an early start of intervention has proven to be effective in promoting speech and language development in children with hearing loss. During the COVID-19 pandemic, newborn hearing screening was postponed for a group of newborns in the Netherlands. Therefore, meeting the guidelines for early identification was at risk. In this study, we examine parental attitudes, beliefs, and experiences concerning the hearing screening during the COVID-19 pandemic. Our results indicated that parents (n = 1053) were very positive about newborn hearing screening and their experiences with the screening, even during the COVID-19 pandemic. Parents’ beliefs on the information provision around newborn hearing screening were more inconsistent. The results showed that parents with a postponed hearing screening felt less informed about the hearing screening than parents without a postponed screening. Furthermore, child and family characteristics affected how parents experienced newborn hearing screening. Parents with a premature child were more worried about the hearing abilities of their child before the screening took place. The results also indicate that deafness in the family might lead to parental worries around newborn hearing screening.
事实证明,通过新生儿听力筛查及早发现听力损失,然后及早开始干预,能有效促进听力损失儿童的言语和语言发展。在 COVID-19 大流行期间,荷兰推迟了一批新生儿的听力筛查。因此,满足早期识别指南的要求面临风险。在这项研究中,我们探讨了在 COVID-19 大流行期间,家长对听力筛查的态度、信念和经验。我们的结果表明,即使在 COVID-19 大流行期间,家长(n = 1053)对新生儿听力筛查和他们的筛查经历也持非常积极的态度。家长们对新生儿听力筛查信息提供的看法不尽相同。结果显示,与没有推迟听力筛查的家长相比,推迟过听力筛查的家长对听力筛查的知情程度较低。此外,儿童和家庭特征也影响了家长对新生儿听力筛查的感受。早产儿家长在筛查前更担心孩子的听力能力。研究结果还表明,家庭中的耳聋可能会导致父母对新生儿听力筛查的担忧。
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引用次数: 0
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS 葡萄牙新生儿筛查计划:使用 MS/MS 进行的 18 年队列研究
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2024-03-20 DOI: 10.3390/ijns10010025
Maria Miguel Gonçalves, A. Marcão, Carmen Sousa, C. Nogueira, H. Fonseca, H. Rocha, L. Vilarinho
The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs). The study’s purpose is to assess the epidemiology of the screened metabolic diseases and to evaluate the impact of second-tier testing (2TT) within the PNSP. From 2004 to 2022, 1,764,830 neonates underwent screening using tandem mass spectrometry (MS/MS) to analyze amino acids and acylcarnitines in dried blood spot samples. 2TT was applied when necessary. Neonates with profiles indicating an IEM were reported to a reference treatment center, and subsequent biochemical and molecular studies were conducted for diagnostic confirmation. Among the screened neonates, 677 patients of IEM were identified, yielding an estimated birth prevalence of 1:2607 neonates. The introduction of 2TT significantly reduced false positives for various disorders, and 59 maternal cases were also detected. This study underscores the transformative role of MS/MS in neonatal screening, emphasizing the positive impact of 2TT in enhancing sensitivity, specificity, and positive predictive value. Our data highlight the efficiency and robustness of neonatal screening for IEM in Portugal, contributing to early and life-changing diagnoses.
葡萄牙新生儿筛查计划(PNSP)在全国范围内开展罕见病筛查,几乎覆盖了100%的新生儿,筛查28种疾病,包括24种先天性代谢异常(IEM)。该研究的目的是评估筛查出的代谢性疾病的流行病学,并评估在 PNSP 内进行二级检测(2TT)的影响。从 2004 年到 2022 年,1,764,830 名新生儿接受了使用串联质谱(MS/MS)分析干血斑样本中氨基酸和酰肉碱的筛查。必要时采用 2TT 方法。如果新生儿检查结果显示患有 IEM,则将其报告给参考治疗中心,随后进行生化和分子研究以确诊。在接受筛查的新生儿中,共发现了 677 名 IEM 患者,估计出生率为 1:2607。2TT 的引入大大降低了各种疾病的假阳性率,同时还发现了 59 例母体病例。这项研究强调了 MS/MS 在新生儿筛查中的变革性作用,强调了 2TT 在提高灵敏度、特异性和阳性预测值方面的积极影响。我们的数据突显了葡萄牙新生儿IEM筛查的高效性和稳健性,有助于及早做出改变生命的诊断。
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引用次数: 0
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK 英国新生儿异戊酸血症筛查阳性结果回顾及提高新生儿筛查有效性的策略制定
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2024-03-13 DOI: 10.3390/ijns10010024
R. Carling, Katy Hedgethorne, A. Chakrapani, Patricia L Hall, Nick Flynn, Toby Greenfield, Stuart J Moat, Joshua Ssali, L. Shakespeare, Nazia Taj, Teresa Wu, Mark Anderson, Arunabha Ghosh, Hugh Lemonde, Germaine Pierre, M. Sharrard, Sreevidya Sreekantam, James R Bonham
Since the UK commenced newborn screening for isovaleric acidemia in 2015, changes in prescribing have increased the incidence of false positive (FP) results due to pivaloylcarnitine. A review of screening results between 2015 and 2022 identified 24 true positive (TP) and 84 FP cases, with pivalate interference confirmed in 76/84. Initial C5 carnitine (C5C) did not discriminate between FP and TP with median (range) C5C of 2.9 (2.0–9.6) and 4.0 (1.8–>70) µmol/L, respectively, and neither did Precision Newborn Screening via Collaborative Laboratory Integrated Reports (CLIR), which identified only 1/47 FP cases. However, among the TP cases, disease severity showed a correlation with initial C5C in ‘asymptomatic’ individuals (n = 17), demonstrating a median (range) C5C of 3.0 (1.8–7.1) whilst ‘clinically affected’ patients (n = 7), showed a median (range) C5C of 13.9 (7.7–70) µmol/L. These findings allowed the introduction of dual cut-off values into the screening algorithm to reduce the incidence of FPs, with initial C5C results ≥ 5 µmol/L triggering urgent referral, and those >2.0 and <5.0 µmol/L prompting second-tier C5-isobar testing. This will avoid delayed referral in babies at particular risk whilst reducing the FP rate for the remainder.
自 2015 年英国开始新生儿异戊酸血症筛查以来,处方的变化增加了因新戊酰基肉碱导致的假阳性 (FP) 结果的发生率。对 2015 年至 2022 年期间的筛查结果进行回顾后发现,有 24 例真阳性 (TP) 和 84 例 FP,其中 76/84 例确认了特戊酰基肉碱干扰。初始 C5 肉碱(C5C)不能区分 FP 和 TP,C5C 的中位数(范围)分别为 2.9(2.0-9.6)和 4.0(1.8->70)µmol/L,通过协作实验室综合报告(CLIR)进行的新生儿精准筛查也不能区分 FP 和 TP,仅发现了 1/47 个 FP 病例。然而,在 TP 病例中,疾病严重程度与 "无症状 "患者(17 人)的初始 C5C 值相关,C5C 值的中位数(范围)为 3.0(1.8-7.1),而 "临床受影响 "患者(7 人)的 C5C 值的中位数(范围)为 13.9(7.7-70)µmol/L。根据这些发现,在筛查算法中引入了双重临界值,以减少FP的发生率,初始C5C结果≥ 5 µmol/L时会触发紧急转诊,而>2.0和<5.0 µmol/L时会触发二级C5-isobar检测。这将避免有特殊风险的婴儿延迟转诊,同时降低其余婴儿的 FP 率。
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引用次数: 0
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey 香港扩大新生儿先天性代谢异常筛查:七年历程的结果和成果
IF 3.5 Q1 Immunology and Microbiology Pub Date : 2024-03-11 DOI: 10.3390/ijns10010023
K. Belaramani, T. Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet-Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, J. Chow, E. Yau, A. Fu, Josephine Shuk Ching Chong, H. Yau, G. Poon, K. Ng, Kwong-tat Chan, Y. Lam, Joannie Hui, Chloe Miu Mak, C. Fung
Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally is expanding rapidly in parallel with advances in technology, diagnosis, and treatment availability for these conditions. In Hong Kong, NBS for inborn errors of metabolism (NBSIEM) began as a pilot program in October 2015 and was implemented to all birthing hospitals within the public healthcare system in phases, with completion in October 2020. The number of conditions screened for increased from 21 to 24 in April 2016 and then to 26 in October 2019. The overall recruitment rate of the NBS program was 99.5%. In the period between October 2015 and December 2022, 125,688 newborns were screened and 295 were referred back for abnormal results. The recall rate was reduced from 0.26% to 0.12% after the implementation of second-tier testing. An inherited metabolic disorder (IMD) was eventually confirmed in 47 infants, making the prevalence of IMD in Hong Kong 1 in 2674. At the time of the NBS result, 78.7% of the newborns with IMD were asymptomatic. There were two deaths reported: one newborn with methylmalonic acidemia cobalamin B type (MMACblB) died after the initial crisis and another case of carnitine palmitoyltransferase II deficiency (CPTII) died at 18 months of age after metabolic decompensation. The most common IMD noted were disorders of fatty acid oxidation metabolism (40%, 19 cases), closely followed by disorders of amino acid metabolism (38%, 18 cases), with carnitine uptake defect (19.1%, 9 cases) and citrullinemia type II (17%, 8 cases) being the two most common IMD picked up by the NBSIEM in Hong Kong. Out of the all the IMDs identified, 19.1% belonged to diverse ethnic groups. False negative cases were reported for citrullinemia type II and congenital adrenal hyperplasia during this period.
新生儿疾病筛查(NBS)是一项重要的公共卫生计划,其目的是发现无症状前的健康婴儿,如果不及时诊断和治疗,这些婴儿将发展成重大疾病。随着技术、诊断和治疗手段的进步,全球接受筛查的疾病数量也在迅速增加。在香港,先天性代谢异常新生儿筛查(NBSIEM)于 2015 年 10 月开始试点,并分阶段在公立医疗系统内的所有分娩医院实施,将于 2020 年 10 月完成。2016 年 4 月,筛查病种从 21 种增至 24 种,2019 年 10 月增至 26 种。新生儿筛查计划的总体招募率为 99.5%。在 2015 年 10 月至 2022 年 12 月期间,125688 名新生儿接受了筛查,295 名新生儿因结果异常而被转回。实施二级检测后,召回率从 0.26% 降至 0.12%。最終有 47 名嬰兒證實患有遺傳性代謝障礙,令香港的遺傳性代謝障礙發病率為每 2674 名嬰兒中有 1 名患有這種障礙。在国家新生儿筛查结果出来时,78.7%的新生儿无症状。据报告,有两名新生儿死亡:一名患有甲基丙二酸血症钴胺 B 型(MMACblB)的新生儿在最初的危象后死亡,另一名患有肉碱棕榈酰转移酶 II 缺乏症(CPTII)的新生儿在 18 个月大时因代谢失调而死亡。最常见的IMD是脂肪酸氧化代谢紊乱(40%,19例),紧随其后的是氨基酸代谢紊乱(38%,18例),肉碱摄取缺陷(19.1%,9例)和瓜氨酸血症II型(17%,8例)是NBSIEM在香港发现的两种最常见的IMD。在所有被识别的IMD中,19.1%属于不同的种族群体。在这期间,曾有瓜氨酸血症II型和先天性肾上腺增生症的假阴性个案报告。
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International Journal of Neonatal Screening
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