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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
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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引用次数: 0
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges. 新生儿筛查的多指标方法:机遇与挑战。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-06-21 DOI: 10.3390/ijns10030042
Alex J Ashenden, Ayesha Chowdhury, Lucy T Anastasi, Khoa Lam, Tomas Rozek, Enzo Ranieri, Carol Wai-Kwan Siu, Jovanka King, Emilie Mas, Karin S Kassahn

Newborn screening programs have seen significant evolution since their initial implementation more than 60 years ago, with the primary goal of detecting treatable conditions within the earliest possible timeframe to ensure the optimal treatment and outcomes for the newborn. New technologies have driven the expansion of screening programs to cover additional conditions. In the current era, the breadth of screened conditions could be further expanded by integrating omic technologies such as untargeted metabolomics and genomics. Genomic screening could offer opportunities for lifelong care beyond the newborn period. For genomic newborn screening to be effective and ready for routine adoption, it must overcome barriers such as implementation cost, public acceptability, and scalability. Metabolomics approaches, on the other hand, can offer insight into disease phenotypes and could be used to identify known and novel biomarkers of disease. Given recent advances in metabolomic technologies, alongside advances in genomics including whole-genome sequencing, the combination of complementary multi-omic approaches may provide an exciting opportunity to leverage the best of both approaches and overcome their respective limitations. These techniques are described, along with the current outlook on multi-omic-based NBS research.

新生儿筛查计划自 60 多年前开始实施以来,经历了重大的演变,其主要目标是尽早发现可治疗的疾病,以确保新生儿获得最佳治疗和预后。新技术推动了筛查计划的扩展,使其涵盖更多疾病。在当今时代,通过整合非靶向代谢组学和基因组学等奥米克技术,可进一步扩大筛查病症的范围。基因组筛查可为新生儿期后的终身护理提供机会。要使基因组新生儿筛查有效并可常规采用,必须克服实施成本、公众接受度和可扩展性等障碍。另一方面,代谢组学方法可以提供对疾病表型的洞察力,并可用于确定疾病的已知和新型生物标记物。鉴于代谢组学技术的最新进展,以及基因组学(包括全基因组测序)的进步,互补的多组学方法的结合可能会提供一个令人兴奋的机会,充分利用两种方法的优点并克服它们各自的局限性。本文介绍了这些技术以及目前基于多组学的 NBS 研究前景。
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引用次数: 0
Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms. 新生儿和杜氏肌营养不良症患者血液中肌酸激酶-MM 的年龄相关水平:制定新生儿筛查算法的考虑因素》。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-06-19 DOI: 10.3390/ijns10020041
Sarah Nelson Potter, Brooke Migliore, Javan Carter, Veronica R Copeland, Edward C Smith, Holly L Peay, Katerina S Kucera

Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder and the most common type of muscular dystrophy in children. As newborn screening (NBS) for DMD undergoes evaluation for the Recommended Uniform Screening Panel and is already mandated in multiple states, refining NBS algorithms is of utmost importance. NBS for DMD involves measuring creatine kinase-MM (CK-MM) concentration-a biomarker of muscle damage-in dried blood spots. The current test is FDA-approved for samples obtained less than 72 h after birth. Separate reference ranges are needed for samples collected later than 72 h after birth. In this study, we investigated the relationship between age and CK-MM in presumed healthy newborns to inform NBS algorithm designs. In patients with DMD, CK-MM is persistently elevated in childhood and adolescence, while it may be transiently elevated for other reasons in healthy newborns. CK-MM decrease over time was demonstrated by a population sample of 20,306 presumed healthy newborns tested between 0 and 60 days of life and repeat testing of 53 newborns on two separate days. In the population sample, CK-MM concentration was highest in the second 12 h period of life (median = 318 ng/mL) when only 57.6% of newborns tested below 360 ng/mL, the lowest previously published cutoff. By 72 h of age, median CK-MM concentration was 97 ng/mL, and 96.0% of infants had concentrations below 360 ng/mL. Between 72 h and 60 days, median CK-MM concentration ranged from 32 to 37 ng/mL. Establishing age-related cutoffs is crucial for optimizing the sensitivity and specificity of NBS for DMD.

杜兴氏肌营养不良症(DMD)是一种 X 连锁进行性疾病,也是最常见的儿童肌营养不良症。由于针对 DMD 的新生儿筛查(NBS)正在接受推荐统一筛查小组的评估,并且已在多个州强制实施,因此完善 NBS 算法至关重要。DMD 的 NBS 包括测量干血斑中肌酸激酶-MM(CK-MM)的浓度--一种肌肉损伤的生物标志物。目前的检测方法已获得 FDA 批准,适用于出生后 72 小时内采集的样本。出生后 72 小时后采集的样本需要单独的参考范围。在本研究中,我们调查了假定健康新生儿的年龄与 CK-MM 之间的关系,以便为 NBS 算法设计提供参考。在 DMD 患者中,CK-MM 在儿童期和青春期持续升高,而在健康新生儿中,CK-MM 可能因其他原因短暂升高。对出生后 0 天至 60 天的 20,306 名假定健康的新生儿进行人口抽样检测,并对 53 名新生儿分别在两天内进行重复检测,结果显示 CK-MM 随时间推移而下降。在人群样本中,CK-MM 浓度在出生后 12 小时内最高(中位数 = 318 纳克/毫升),当时只有 57.6% 的新生儿检测结果低于 360 纳克/毫升,这是之前公布的最低临界值。出生 72 小时后,CK-MM 浓度中位数为 97 纳克/毫升,96.0% 的婴儿浓度低于 360 纳克/毫升。在 72 小时至 60 天期间,CK-MM 的中位浓度介于 32 至 37 纳克/毫升之间。确定与年龄相关的临界值对于优化 DMD NBS 的灵敏度和特异性至关重要。
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引用次数: 0
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. 通过新生儿筛查检测细胞内 B12 活性降低的益处尚不明确。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2024-06-18 DOI: 10.3390/ijns10020040
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B Wortmann, Vassiliki Konstantopoulou, Martina Huemer

Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D suspected by NBS, B12D was not further investigated in 16 (27%) retrospectively identified cases, not confirmed in 28 (48%), and confirmed in 15 (25%) cases. NBS and recall biomarkers were recorded. Age at sampling of the dried blood spots for NBS and the 1st-tier methionine/phenylalanine ratio were the strongest parameters to predict B12D (67.4% correct allocations). No differences between cases with confirmed, unconfirmed, or unknown B12D or differences to norms were observed for growth and psychomotor development (Vineland III scales, phone interviews with parents of children between months 10 and 14 of life). B12 intake was below recommendations in most mothers. NBS can detect reduced intracellular B12 activity. No advantage of NBS detection and treatment regarding infant cognitive development or growth could be proven. Since conspicuous NBS findings cannot be ignored, and to prevent exposing newborns to invasive diagnostics, assessment of maternal B12 status during pregnancy seems advisable.

维生素 B12(B12)缺乏症(B12D)会对早期生长发育造成不利影响。奥地利的新生儿筛查(NBS)项目主要针对钴胺素代谢先天性错误,同时也检测 B12D。在纳入的 59 名通过 NBS 怀疑患有 B12D 的新生儿中,有 16 例(27%)回顾性病例未对 B12D 进行进一步检查,28 例(48%)未确诊,15 例(25%)确诊。记录了 NBS 和回顾性生物标志物。干血斑采样年龄和第一级蛋氨酸/苯丙氨酸比值是预测 B12D 的最强参数(分配正确率为 67.4%)。在生长发育和精神运动发育方面(维尼兰量表 III,对出生后第 10 个月至第 14 个月的儿童家长进行的电话访谈),未观察到确诊、未确诊或 B12D 未知病例之间的差异,也未观察到与常模的差异。大多数母亲的 B12 摄入量低于推荐值。NBS 可检测出细胞内 B12 活性的降低。NBS 检测和治疗对婴儿的认知发展或生长发育并无益处。由于明显的 NBS 结果不容忽视,而且为了避免新生儿接受侵入性诊断,在怀孕期间对母亲的 B12 状态进行评估似乎是明智之举。
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引用次数: 0
Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study. 镰状细胞病新生儿筛查随访的现行方法千差万别且缺乏质量保证:ENHANCE 研究的结果。
IF 3.5 Q1 GENETICS & HEREDITY Pub Date : 2024-03-08 DOI: 10.3390/ijns10010022
Najibah Galadanci, Shannon Phillips, Alyssa Schlenz, Nataliya Ivankova, Julie Kanter

Newborn screening (NBS) for sickle cell disease (SCD) has significantly improved childhood survival but there are still gaps resulting in delayed care for affected infants. As a state-run program, there are no national quality assurance programs to ensure each state achieves consistent, reliable outcomes. We performed this qualitative study of NBS follow-up practices to better evaluate and understand the multi-level, state-specific processes of how each state's public health department delivers the NBS results to families, how/if they ensure affected infants are seen quickly by sickle cell specialists, and to determine the close-out processes used in each state. This project used semi-structured interviews conducted with 29 participants across eight states to explore these NBS follow-up processes in each state. Participants included SCD providers, NBS coordinators, or personnel associated with state health departments and community-based SCD organizations (CBO). Our results show significant state-dependent variations in the NBS processes of information delivery and patient management. Specifically, programs differed in how they communicated results to affected families and which other organizations were informed of the diagnosis. There was also state-based (and intrastate) variation in who should assume responsibility for ensuring that infants receive confirmatory testing and are promptly started on penicillin prophylaxis. Case closure was also highly variable and poorly validated. Our results also yielded identifiable challenges and facilitators to NBS which were highly variable by state but potentially addressable in the future. This information suggests opportunities for systematic improvement in NBS follow-up processes.

镰状细胞病 (SCD) 的新生儿筛查 (NBS) 已显著提高了儿童的存活率,但仍存在差距,导致患病婴儿的治疗被延误。作为一项由州政府管理的项目,没有全国性的质量保证计划来确保每个州都能取得一致、可靠的结果。我们对 NBS 随访实践进行了这项定性研究,以更好地评估和了解各州公共卫生部门如何将 NBS 结果传达给家庭、如何/是否确保镰状细胞专家迅速诊治患儿以及各州采用的结案流程等多层次、各州特有的流程。本项目采用半结构式访谈的方式,对八个州的 29 名参与者进行了访谈,以探讨各州的这些 NBS 随访流程。参与者包括 SCD 提供者、NBS 协调员或与州卫生部门和社区 SCD 组织 (CBO) 相关的人员。我们的研究结果表明,各州在 NBS 的信息传递和患者管理过程中存在很大差异。具体来说,这些项目在如何将结果告知受影响家庭以及向哪些其他组织通报诊断结果方面存在差异。在由谁负责确保婴儿接受确诊检测并及时开始青霉素预防治疗方面,各州(以及州内)也存在差异。病例结案也存在很大差异,而且验证不充分。我们的研究结果还发现了 NBS 所面临的挑战和促进因素,这些挑战和因素在各州之间存在很大差异,但在未来有可能得到解决。这些信息为系统改进 NBS 随访流程提供了机会。
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引用次数: 0
期刊
International Journal of Neonatal Screening
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