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Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil. 降低 TSH 临界值对巴西米纳斯吉拉斯州新生儿先天性甲状腺功能减退症筛查的影响
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-07-18 DOI: 10.3390/ijns10030052
Nathalia Teixeira Palla Braga, Jáderson Mateus Vilela Antunes, Enrico Antônio Colosimo, Vera Maria Alves Dias, José Nélio Januário, Ivani Novato Silva

A higher incidence of primary congenital hypothyroidism (CH) has been related to increased sensitivity in neonatal screening tests. The benefit of treatment in mild cases remains a topic of debate. We evaluated the impact of reducing the blood-spot TSH cut-off (b-TSH) from 10 (Group 2) to 6 mIU/L (Group 1) in a public neonatal screening program. During the study period, 40% of 123 newborns with CH (n = 162,729; incidence = 1:1323) had b-TSH between 6 and 10 mIU/L. Group 1 patients had fewer clinical signs (p = 0.02), lower serum TSH (p < 0.01), and higher free T4 (p < 0.01) compared to those in Group 2 at diagnosis. Reducing the b-TSH cut-off from 10 to 6 mIU/L increased screening sensitivity, allowing a third of diagnoses, mainly mild cases, not being missed. However, when evaluating the performances of b-TSH cut-offs (6, 7, 8, 9, and 10 mIU/L), the lower values were associated with low positive predictive values (PPVs) and unacceptable increased recall rates (0.57%) for a public health care program. A proposed strategy is to adopt a higher b-TSH cut-off in the first sample and a lower one in the subsequent samples from the same child, which yields a greater number of diagnoses with an acceptable PPV.

原发性先天性甲状腺功能减退症(CH)发病率的升高与新生儿筛查试验灵敏度的提高有关。对轻度病例进行治疗的益处仍是一个争论不休的话题。我们评估了在一项公共新生儿筛查项目中将血斑 TSH 临界值(b-TSH)从 10(第 2 组)降至 6 mIU/L(第 1 组)的影响。在研究期间,123 名 CH 新生儿(n = 162 729;发病率 = 1:1323)中有 40% 的 b-TSH 在 6 至 10 mIU/L 之间。与诊断时的第 2 组患者相比,第 1 组患者的临床症状较少(p = 0.02),血清 TSH 较低(p < 0.01),游离 T4 较高(p < 0.01)。将 b-TSH 临界值从 10 mIU/L 降低到 6 mIU/L,提高了筛查灵敏度,使三分之一的诊断(主要是轻度病例)没有被漏诊。然而,在评估 b-TSH 临界值(6、7、8、9 和 10 mIU/L)的性能时,较低的值与较低的阳性预测值(PPV)有关,而且对于公共医疗保健项目来说,召回率的增加(0.57%)也是不可接受的。建议采取的策略是,在第一个样本中采用较高的 b-TSH 临界值,而在同一儿童的后续样本中采用较低的 b-TSH 临界值,这样可以获得更多的诊断结果,且 PPV 值可以接受。
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引用次数: 0
CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy. 疾病预防控制中心支持新生儿脊髓性肌肉萎缩症筛查的实验室活动。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-07-17 DOI: 10.3390/ijns10030051
Francis K Lee, Christopher Greene, Kristina Mercer, Jennifer Taylor, Golriz Yazdanpanah, Robert Vogt, Rachel Lee, Carla Cuthbert, Suzanne Cordovado

Spinal muscular atrophy (SMA) was added to the HHS Secretary's Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage. In anticipation of supporting SMA newborn screening, scientists at the U.S. Centers for Disease Control and Prevention (CDC) have worked towards building resources for public health laboratories in four phases since 2013. In Phase 1, CDC established a real-time PCR assay, which uses a locked nucleic acid probe to attain the needed specificity, to detect SMN1 exon 7. In Phase 2, we developed quality assurance dried blood spot materials made with transduced lymphoblast cell lines established from de-identified SMA patients, carriers, and unaffected donors. In 2021, CDC implemented Phase 3, a proficiency testing program, that now supports 115 NBS labs around the world. We are currently completing Phase 4, which includes the implementation of an external SMA quality control material program. Also, during this time, CDC has provided individual technical assistance to NBS programs and bench training to NBS scientists during our annual molecular workshop. These CDC-led activities have contributed to the rapid and full implementation of SMA screening in all 50 U.S. states as of February 2024.

脊髓性肌萎缩症(SMA)于 2018 年被纳入美国卫生与公共服务部部长推荐的新生儿筛查(NBS)统一筛查组,使受影响的婴儿能够得到早期诊断和治疗,以防止不可逆转的运动神经元损伤。为了支持 SMA 新生儿筛查,美国疾病控制和预防中心(CDC)的科学家们自 2013 年起分四个阶段努力为公共卫生实验室建设资源。在第一阶段,CDC 建立了一种实时 PCR 检测方法,该方法使用锁定的核酸探针来达到所需的特异性,以检测 SMN1 第 7 外显子。在第二阶段,我们开发了质量保证的干血斑材料,这些材料是用从身份不明的 SMA 患者、携带者和未受影响的捐赠者身上建立的转导淋巴母细胞系制成的。2021 年,疾病预防控制中心实施了第 3 阶段,即能力测试计划,目前已为全球 115 家 NBS 实验室提供支持。我们目前正在完成第 4 阶段,其中包括实施外部 SMA 质量控制材料计划。此外,在此期间,疾病预防控制中心还为 NBS 计划提供了个人技术援助,并在我们的年度分子研讨会上为 NBS 科学家提供了工作台培训。这些由疾病预防控制中心牵头的活动有助于到 2024 年 2 月在美国所有 50 个州迅速全面实施 SMA 筛查。
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引用次数: 0
One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia. 克罗地亚共和国新生儿脊髓性肌肉萎缩症筛查一年试点研究结果。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-07-16 DOI: 10.3390/ijns10030050
Darija Šimić, Ana Šarić, Ana Škaričić, Ivan Lehman, Branka Bunoza, Ivana Rako, Ksenija Fumić

Spinal muscular atrophy (SMA) is a neuromuscular and neurodegenerative disease caused by the homozygous deletion of SMN1 exon 7 in 95% of cases. The prognosis for SMA patients has improved with the development of disease-modifying therapies, all of which are available in Croatia. The best treatment outcomes occur when therapy is applied before symptoms appear, making newborn screening (NBS) for SMA a crucial factor. Since SMA NBS is the first genetic test performed in our laboratory, for successful implementation of the program, we had to overcome logistical and organizational issues. Herein, we present the results of the SMA NBS during the one-year pilot project in Croatia and verify the suitability of the Targeted qPCR SMA assay for SMA NBS. The pilot project started on 1 March 2023 in the Department for Laboratory Diagnostics of the University Hospital Center Zagreb. A total of 32,655 newborns were tested. Five SMA patients were detected, and their diagnoses were confirmed by the multiplex ligation-dependent probe amplification (MLPA) assay. There have been no false positive or false negative results, to our knowledge so far. The incidence of SMA determined during the pilot study is consistent with the SMA incidence data from other European countries.

脊髓性肌萎缩症(SMA)是一种神经肌肉和神经退行性疾病,95% 的病例由 SMN1 第 7 号外显子同源缺失引起。随着疾病改变疗法的发展,SMA 患者的预后有所改善,克罗地亚已提供所有这些疗法。只有在症状出现之前进行治疗,才能取得最佳治疗效果,因此新生儿SMA筛查(NBS)至关重要。由于 SMA 新生儿筛查(NBS)是我们实验室开展的第一项基因检测,为了成功实施该计划,我们必须克服后勤和组织方面的问题。在此,我们介绍了克罗地亚为期一年的 SMA NBS 试点项目的结果,并验证了靶向 qPCR™ SMA 检测法在 SMA NBS 中的适用性。试点项目于 2023 年 3 月 1 日在萨格勒布大学医院中心实验室诊断部启动。共有 32,655 名新生儿接受了检测。其中发现了五名 SMA 患者,并通过多重结扎依赖性探针扩增 (MLPA) 分析法确诊。据我们所知,迄今为止没有出现假阳性或假阴性结果。试点研究中确定的 SMA 发病率与其他欧洲国家的 SMA 发病率数据一致。
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引用次数: 0
Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy 新生儿脊髓性肌肉萎缩症筛查计划的系统性回顾
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-07-15 DOI: 10.3390/ijns10030049
Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill, A. Bessey
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder causing the degeneration of motor neurons in the spinal cord. Recent studies suggest greater effectiveness of treatment in the presymptomatic stage. This systematic review synthesises findings from 37 studies (and 3 overviews) of newborn screening for SMA published up to November 2023 across 17 countries to understand the methodologies used; test accuracy performance; and timing, logistics and feasibility of screening. All studies screened for the homozygous deletion of SMN1 exon 7. Most (28 studies) used RT-PCR as the initial test on dried blood spots (DBSs), while nine studies also reported second-tier tests on DBSs for screen-positive cases. Babies testing positive on DBSs were referred for confirmatory testing via a range of methods. Observed SMA birth prevalence ranged from 1 in 4000 to 1 in 20,000. Most studies reported no false-negative or false-positive cases (therefore had a sensitivity and specificity of 100%). Five studies reported either one or two false-negative cases each (total of six cases; three compound heterozygotes and three due to system errors), although some false-negatives may have been missed due to lack of follow-up of negative results. Eleven studies reported false-positive cases, some being heterozygous carriers or potentially related to heparin use. Time to testing and treatment varied between studies. In conclusion, several countries have implemented newborn screening for SMA in the last 5 years using a variety of methods. Implementation considerations include processes for timely initial and confirmatory testing, partnerships between screening and neuromuscular centres, and timely treatment initiation.
脊髓性肌萎缩症(SMA)是一种遗传性神经肌肉疾病,会导致脊髓运动神经元退化。最新研究表明,无症状阶段的治疗效果更好。本系统性综述综合了截至 2023 年 11 月在 17 个国家/地区发表的 37 项新生儿 SMA 筛查研究(和 3 项综述)的结果,以了解所使用的方法、测试准确性表现以及筛查的时间、物流和可行性。所有研究都筛查了 SMN1 第 7 外显子的同源缺失。大多数研究(28 项研究)使用 RT-PCR 作为干血斑 (DBS) 的初步检测方法,9 项研究还报告了对筛查阳性病例的 DBS 进行二级检测的情况。干血斑检测呈阳性的婴儿会通过各种方法转诊进行确证检测。观察到的 SMA 出生率从 1:4000 到 1:20000 不等。大多数研究报告没有假阴性或假阳性病例(因此灵敏度和特异性均为 100%)。五项研究分别报告了一个或两个假阴性病例(共六个病例;三个复合杂合子,三个由于系统错误),尽管由于缺乏对阴性结果的随访,一些假阴性病例可能被漏掉。有 11 项研究报告了假阳性病例,其中一些是杂合子携带者或可能与肝素的使用有关。不同研究的检测和治疗时间各不相同。总之,在过去 5 年中,一些国家已采用多种方法对新生儿进行了 SMA 筛查。实施过程中的注意事项包括及时进行初始和确诊检测、筛查中心和神经肌肉中心之间的合作以及及时开始治疗。
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引用次数: 0
Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling 产前无细胞 DNA 筛查与性染色体非整倍体诊断结果不一致:对新生儿筛查和遗传咨询的影响
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-07-10 DOI: 10.3390/ijns10030048
S. Howell, Shanlee M. Davis, Billie J. Carstens, Mary Haag, Judith L. Ross, Nicole R. Tartaglia
Sex chromosome aneuploidies (SCAs) collectively occur in 1 in 500 livebirths, and diagnoses in the neonatal period are increasing with advancements in prenatal and early genetic testing. Inevitably, SCA will be identified on either routine prenatal or newborn screening in the near future. Tetrasomy SCAs are rare, manifesting more significant phenotypes compared to trisomies. Prenatal cell-free DNA (cfDNA) screening has been demonstrated to have relatively poor positive predictive values (PPV) in SCAs, directing genetic counseling discussions towards false-positive likelihood rather than thoroughly addressing all possible outcomes and phenotypes, respectively. The eXtraordinarY Babies study is a natural history study of children prenatally identified with SCAs, and it developed a longitudinal data resource and common data elements with the Newborn Screening Translational Research Network (NBSTRN). A review of cfDNA and diagnostic reports from participants identified a higher than anticipated rate of discordance. The aims of this project are to (1) compare our findings to outcomes from a regional clinical cytogenetic laboratory and (2) describe discordant outcomes from both samples. Twenty-one (10%), and seven (8.3%) cases were found to be discordant between cfDNA (result or indication reported to lab) and diagnosis for the Babies Study and regional laboratory, respectively. Discordant results represented six distinct discordance categories when comparing cfDNA to diagnostic results, with the largest groups being Trisomy cfDNA vs. Tetrasomy diagnosis (66.7% of discordance in eXtraordinarY Babies study) and Mosaicism (57.1% in regional laboratory). Traditional genetic counseling for SCA-related cfDNA results is inadequate given a high degree of discordance that jeopardizes the accuracy of the information discussed and informed decision making following prenatal genetic counseling.
每 500 个活产婴儿中就有 1 个出现性染色体非整倍体(SCA),随着产前和早期基因检测技术的进步,新生儿期的诊断率也在不断提高。在不久的将来,常规产前筛查或新生儿筛查将不可避免地发现 SCA。四体综合征 SCA 比较罕见,与三体综合征相比,其表现型更为显著。产前无细胞 DNA(cfDNA)筛查已被证明对 SCA 的阳性预测值(PPV)相对较低,这导致遗传咨询的讨论偏向于假阳性的可能性,而不是彻底讨论所有可能的结果和表型。eXtraordinarY Babies 研究是一项针对产前发现患有 SCAs 儿童的自然史研究,它与新生儿筛查转化研究网络 (NBSTRN) 共同开发了纵向数据资源和通用数据元素。对参与者的 cfDNA 和诊断报告进行审查后发现,不一致率高于预期。本项目的目的是:(1)将我们的研究结果与地区性临床细胞遗传实验室的结果进行比较;(2)描述两种样本的不一致结果。婴儿研究 "和地区实验室分别发现 21 例(10%)和 7 例(8.3%)cfDNA(向实验室报告的结果或指征)与诊断结果不一致。在比较 cfDNA 与诊断结果时,不一致的结果有六个不同的不一致类别,其中最大的类别是三体综合征 cfDNA 与四体综合征诊断不一致(eXtraordinarY 婴儿研究的不一致比例为 66.7%)和嵌合体(区域实验室的不一致比例为 57.1%)。鉴于高度不一致性,针对 SCA 相关 cfDNA 结果的传统遗传咨询是不充分的,这会危及产前遗传咨询后所讨论信息和知情决策的准确性。
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引用次数: 0
Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand 澳大利亚和新西兰新生儿血斑筛查面板上的计数条件
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-07-05 DOI: 10.3390/ijns10030047
N. Heather, Ronda F. Greaves, Kaustav Bhattacharya, Lawrence Greed, James Pitt, Carol Wai-Kwan Siu, Mark R de Hora, Ricky Price, Enzo Ranieri, Tiffany Wotton, Dianne Webster
A greater number of screened conditions is often considered to equate to better screening, whereas it may be due to conditions being counted differently. This manuscript describes a harmonised Australasian approach to listing target conditions found on bloodspot screening panels. Operational definitions for target disorders and incidental findings were developed and applied to disorder lists. A gap analysis was performed between five, state-based Australian newborn screening programme disorder lists and the single national New Zealand and state-level Californian versions. Screening panels were found to be broadly similar. Gap analysis with Californian data reflected differences in jurisdictional approval (for example, haemoglobinopathies and lysosomal disorders not being recommended in Australasia). Differences amongst Australasian panels reflected varied the timeframes recommended in order to implement newly approved disorders, as well as decisions to remove previously screened disorders. A harmonised approach to disorder counting is essential to performing valid comparisons of newborn bloodspot screening panels.
筛查的病症越多,往往被认为筛查效果越好,但这可能是由于病症的计算方法不同。本手稿介绍了一种统一的澳大拉西亚方法,用于列出在血斑筛查面板上发现的目标疾病。我们制定了目标疾病和偶然发现的操作定义,并将其应用于疾病列表。对澳大利亚五个州的新生儿筛查计划疾病列表与新西兰和加利福尼亚州的单一国家版本进行了差距分析。结果发现,筛查面板大致相似。与加利福尼亚州数据的差距分析反映了辖区批准方面的差异(例如,血红蛋白病和溶酶体疾病在澳大拉西亚未被推荐)。澳大拉西亚专家小组之间的差异反映了为实施新批准疾病而建议的时间框架以及删除先前筛查疾病的决定的不同。要对新生儿血斑筛查小组进行有效的比较,统一的疾病计数方法至关重要。
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引用次数: 0
Evaluation of the Newborn Screening Pilot for Sickle Cell Disease in Suriname Using the Non-Adoption, Abandonment, Scale-Up, Spread, and Sustainability (NASSS) Framework 利用 "不采纳、放弃、推广、普及和可持续性"(NASSS)框架评估苏里南新生儿镰状细胞病筛查试点项目
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-07-04 DOI: 10.3390/ijns10030046
Ming-Jan Tang, J. Roosblad, John Codrington, Marjolein Peters, Aartie Toekoen, P. V. van Rheenen, Amadu Juliana
The early detection of sickle cell disease (SCD) is vital to reduce mortality among affected children. Suriname currently lacks a newborn screening programme (NSP) for SCD. We performed a pilot programme to evaluate the scalability of such an initiative. Dried blood spots were collected from five birth centres and subjected to electrophoresis analysis. The programme scalability was evaluated using the non-adoption, abandonment, scale-up, spread, and sustainability framework. Challenges across six domains (illness, technology, value proposition, adopter system, organisation, and societal system), were categorised hierarchically as simple 😊, complicated 😐, or complex 😢. It has been proven that implementing programmes with mainly complicated challenges is difficult and those in mainly complex areas may be unachievable. SCD was detected in 33 of 5185 (0.64%) successfully screened newborns. Most of the domains were classified as simple or complicated. Disease detection and technology suitability for screening in Suriname were confirmed, with favourable parental acceptance. Only minor routine adjustment was required from the medical staff for programme implementation. Complex challenges included a reliance on external suppliers for technical maintenance, ensuring timely access to specialised paediatric care for affected newborns, and securing sustainable financial funding. Scaling up is challenging but feasible, particularly with a targeted focus on identified complex challenges.
早期发现镰状细胞病(SCD)对于降低患病儿童的死亡率至关重要。苏里南目前还没有针对 SCD 的新生儿筛查计划(NSP)。我们开展了一项试点计划,以评估该计划的可扩展性。我们从五个出生中心采集了干血斑,并对其进行了电泳分析。我们使用未采用、放弃、扩大、传播和可持续性框架对计划的可扩展性进行了评估。六个领域(疾病、技术、价值主张、采用者系统、组织和社会系统)的挑战被分级为简单😊、复杂😐或复杂😢。事实证明,主要面对复杂挑战的计划很难实施,而主要面对复杂领域的计划可能无法实现。在成功筛查的 5185 名新生儿中,有 33 人(0.64%)被检测出患有 SCD。大多数领域被归类为简单或复杂。在苏里南,疾病检测和筛查技术的适用性得到了证实,家长的接受度也很高。在计划实施过程中,医务人员只需对日常工作稍作调整。复杂挑战包括依赖外部供应商进行技术维护,确保受影响的新生儿及时获得儿科专业护理,以及确保可持续的财政资金。扩大规模具有挑战性,但也是可行的,特别是要有针对性地关注已确定的复杂挑战。
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引用次数: 0
One Size Does Not Fit All: A Multifaceted Approach to Educate Families about Newborn Screening. 一刀切:对家庭进行新生儿筛查教育的多元方法。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-06-26 DOI: 10.3390/ijns10030044
Marianna H Raia, Molly M Lynch, Alyson C Ward, Jill A Brown, Natasha F Bonhomme, Vicki L Hunting

All families deserve access to readily available, accurate, and relevant information to help them navigate the newborn screening system. Current practices, limited resources, and a siloed newborn screening system create numerous challenges for both providers and families to implement educational opportunities to engage families in ways that meet their needs with relevant and meaningful approaches. Engaging families in newborn screening, especially those from historically underserved communities, is necessary to increase knowledge and confidence which leads to overall improved outcomes for families. This article describes three strategies that the Navigate Newborn Screening Program developed, tested, and implemented in the United States, including online learning modules, a prenatal education pilot program, and social media awareness campaign, as well as the extent to which they were successful in reaching and educating families about newborn screening. Using quality improvement methods and evidence-driven approaches, each of these three strategies demonstrate promising practices for advancing awareness, knowledge, and self-efficacy for families navigating the newborn screening system-particularly families in medically underserved and underrepresented communities. A model for bidirectional engagement of families is outlined to support scaling and implementing promising educational efforts for both providers and families in the newborn screening system.

所有家庭都应该获得随时可用、准确和相关的信息,以帮助他们驾驭新生儿筛查系统。当前的做法、有限的资源和各自为政的新生儿筛查系统为医疗服务提供者和家庭带来了诸多挑战,他们难以利用教育机会,以相关和有意义的方法满足家庭的需求。让家庭参与新生儿筛查,尤其是那些来自历来服务不足社区的家庭,是增加知识和信心的必要条件,而知识和信心的增加可全面改善家庭的结果。本文介绍了 "新生儿筛查导航计划"(Navigate Newborn Screening Program)在美国开发、测试和实施的三种策略,包括在线学习模块、产前教育试点计划和社交媒体宣传活动,以及这些策略在接触和教育新生儿筛查家庭方面的成功程度。利用质量改进方法和以证据为导向的方法,这三项策略分别展示了提高新生儿筛查系统家庭(尤其是医疗服务不足和代表性不足社区的家庭)的意识、知识和自我效能的可行做法。本文概述了家庭双向参与的模式,以支持在新生儿筛查系统中扩大和实施针对医疗服务提供者和家庭的有前途的教育工作。
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引用次数: 0
Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK. 探索英国新生儿遗传性白营养不良症(MLD)筛查的成本效益。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-06-26 DOI: 10.3390/ijns10030045
Karen Bean, Simon A Jones, Anupam Chakrapani, Suresh Vijay, Teresa Wu, Heather Church, Charlotte Chanson, Andrew Olaye, Beckley Miller, Ivar Jensen, Francis Pang

Metachromatic leukodystrophy (MLD) is a fatal inherited lysosomal storage disease that can be detected through newborn bloodspot screening. The feasibility of the screening assay and the clinical rationale for screening for MLD have been previously demonstrated, so the aim of this study is to determine whether the addition of screening for MLD to the routine newborn screening program in the UK is a cost-effective use of National Health Service (NHS) resources. A health economic analysis from the perspective of the NHS and Personal Social Services was developed based on a decision-tree framework for each MLD subtype using long-term outcomes derived from a previously presented partitioned survival and Markov economic model. Modelling inputs for parameters related to epidemiology, test characteristics, screening and treatment costs were based on data from three major UK specialist MLD hospitals, structured expert opinion and published literature. Lifetime costs and quality-adjusted life years (QALYs) were discounted at 1.5% to account for time preference. Uncertainty associated with the parameter inputs was explored using sensitivity analyses. This health economic analysis demonstrates that newborn screening for MLD is a cost-effective use of NHS resources using a willingness-to-pay threshold appropriate to the severity of the disease; and supports the inclusion of MLD into the routine newborn screening programme in the UK.

变色性白质营养不良症(MLD)是一种致命的遗传性溶酶体储积症,可通过新生儿血斑筛查发现。筛查测定的可行性和筛查MLD的临床合理性此前已得到证实,因此本研究的目的是确定在英国常规新生儿筛查项目中增加MLD筛查是否是对国民健康服务(NHS)资源的一种具有成本效益的利用。从英国国家医疗服务体系(NHS)和个人社会服务机构的角度出发,利用以前提出的分区生存和马尔可夫经济模型得出的长期结果,在决策树框架的基础上对每种 MLD 亚型进行了健康经济分析。与流行病学、检测特征、筛查和治疗成本相关的参数的建模输入是基于英国三大 MLD 专科医院的数据、结构化的专家意见和已发表的文献。终生成本和质量调整生命年(QALYs)的贴现率为 1.5%,以考虑时间偏好。通过敏感性分析探讨了与参数输入相关的不确定性。这项卫生经济学分析表明,根据疾病的严重程度来确定支付意愿阈值,新生儿MLD筛查对NHS资源的使用具有成本效益;该分析还支持将MLD纳入英国的常规新生儿筛查计划。
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引用次数: 0
Charting the Course: Towards a Comprehensive Newborn Screening Program in India. 规划路线:印度新生儿全面筛查计划》。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-06-24 DOI: 10.3390/ijns10030043
Seema Kapoor, Amit Kumar Gupta, B K Thelma

Integrating health interventions in a growing economy like India, with a birth cohort of 27 million/year, one-fifth of all childbirths, and approximately one-third of neonatal deaths globally, is a challenge. While mortality statistics are vital, intact survival and early preventive healthcare, such as newborn screening (NBS), are paramount. The appalling lack of information about the precise burden of metabolic errors at the state/national level or a mandated program encouraged a feasibility study of NBS in a prospective newborn cohort recruited in Delhi State (November 2014-April 2017) using a public-private partnership mode. The major determinants for effective implementation of universal NBS at the national level and limitations encountered are discussed in this report. Data to generate the 'core' panel for screening, sustained training of healthcare personnel, dissemination of the power of NBS to ensure neonatal/societal health to the public, and a 'national policy' emerge as priorities in a developing country.

印度每年有 2700 万新生儿,占全球分娩总数的五分之一,新生儿死亡人数约占全球的三分之一,在印度这样一个不断增长的经济体中整合卫生干预措施是一项挑战。虽然死亡率统计数字至关重要,但完整的存活率和早期预防保健,如新生儿筛查(NBS),才是最重要的。由于令人震惊的是,在邦/国家层面或授权计划中缺乏有关代谢错误确切负担的信息,因此我们采用公私合作模式,在德里邦招募的前瞻性新生儿队列中开展了一项 NBS 可行性研究(2014 年 11 月至 2017 年 4 月)。本报告讨论了在国家层面有效实施全民 NBS 的主要决定因素和遇到的局限性。生成筛查 "核心 "小组的数据、对医护人员的持续培训、向公众宣传新生儿筛查确保新生儿/社会健康的力量以及 "国家政策 "成为发展中国家的优先事项。
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International Journal of Neonatal Screening
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