International Journal of Neonatal Screening最新文献

{"title":"Co-Designing a Provincial Newborn Screening Implementation Framework in Pakistan Using a Sequential Blended Workshop Model.","authors":"Aysha H Khan, Lena Jafri, Dianne Webster, Farkhanda Ghafoor, Tariq Zafar, Afzal Saeed, Jaida Manzoor, Fouzia Ishaq, Tayyaba K Butt, Saima Zaki, Azeema Jamil, Hafsa Majid","doi":"10.3390/ijns12030074","DOIUrl":"10.3390/ijns12030074","url":null,"abstract":"<p><p>Newborn screening (NBS) in Pakistan remains limited by fragmented service delivery, uneven provincial capacity, and the absence of an implementation pathway that links policy intent to operational planning. This study aimed to co-design a provincial NBS implementation framework for Punjab. To do so, we used a sequential blended workshop model supported by visual planning methods. We conducted a qualitative, three-phase co-design process with 19 participants from laboratory medicine, pediatrics, obstetrics, public health, academia, and policy. Phase I consisted of pre-work and an online workshop to establish a shared knowledge base and identify implementation barriers and enablers. Phase II used an in-person, visually facilitated planning workshop to translate these findings into a provincial NBS implementation framework. Phase III involved a asynchronous email-based review to refine the framework and reach consensus. Content analysis from Phase I identified five implementation domains: physical and technical infrastructure, operational systems, clinical integration, workforce and engagement, and governance and policy. In Phase II, these domains were translated into a visual implementation framework that specified priorities, stakeholders, risks, enablers, and action areas for phased rollout. Congenital hypothyroidism was identified as the most feasible entry-point condition. The final framework positioned NBS not as a stand-alone pilot, but as a coordinated provincial system requiring governance, financing, referral pathways, quality assurance, and workforce development. This study contributes an implementation-oriented model for moving from fragmented NBS initiatives to a provincial implementation framework in a low- and middle-income setting. It also offers a practical foundation for broader national scale-up.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13607029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result.","authors":"José Manuel González de Aledo-Castillo, Mercedes Casado-Río, Sonia Pajares, Silvia Meavilla Olivas, Laura Gort, Laura Martí Sánchez, Abraham J Paredes-Fuentes, Leticia Pias-Peleteiro, Marta Gomez-Chiari, Montserrat Quintana Vidaurri, Rosa María López-Galera, Ana Argudo-Ramírez, Jaime Sainz de Medrano, Rafael Artuch Iriberri, Judit García-Villoria, Aída Ormazábal Herrero","doi":"10.3390/ijns12030073","DOIUrl":"10.3390/ijns12030073","url":null,"abstract":"<p><p>Classical homocystinuria (HCY) due to cystathionine beta-synthase (CBS) deficiency is included in many newborn screening programs, which traditionally use dried blood spot (DBS) methionine as the primary biomarker. However, some patients have normal or only mildly elevated methionine in the neonatal period, leading to false-negative results. We report a four-month-old male infant referred for sagittal craniosynostosis, whose metabolic evaluation revealed markedly elevated plasma methionine and total homocysteine concentrations. Genetic analysis identified a homozygous, pathogenic variant (c.1007G>A) in the <i>CBS</i> gene, confirming HCY. On retrospective review, the DBS sample had been collected at 48 h of life, and methionine was within the reference range. Consequently, the screening algorithm had not triggered second-tier total homocysteine testing. Sanger sequencing of the original DBS sample confirmed the same homozygous <i>CBS</i> variant, ruling out sample swap and establishing the case as a true false-negative result. Treatment with pyridoxine and folic acid rapidly normalized biochemical parameters, consistent with a pyridoxine-responsive phenotype. This case illustrates that normal neonatal methionine does not exclude CBS deficiency and that genomic newborn screening approaches could detect this disease more reliably.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13607250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Progress and Prospects of Newborn Screening in China.","authors":"Xiaoqiang Hao, Xinwen Huang, Rulai Yang, Xin Yang, Xiaolei Huang, Zhengyan Zhao","doi":"10.3390/ijns12030072","DOIUrl":"10.3390/ijns12030072","url":null,"abstract":"<p><p>Newborn screening (NBS) is a critical component of the three-tiered prevention strategy for birth defects, reducing congenital disorder burden and improving long-term child health outcomes. Over the past 45 years, NBS in China has evolved into a nationwide quality-controlled network driven by policy support and technological advances. Currently, phenylketonuria and congenital hypothyroidism are included in universal NBS across the country, and several provinces have expanded to encompass congenital adrenal hyperplasia, glucose-6-phosphate dehydrogenase deficiency, and additional inherited metabolic disorders identified through tandem mass spectrometry. The application of next-generation sequencing and other technologies has further enhanced detection capacity and expanded detectable disease spectra. Meanwhile, the National Quality Management System for NBS (QMS-NBS) has realized the visualization and standardization of screening quality and performance. Despite these advances, challenges remain, including regional disparities, inadequate follow-up, and long-term management. This review summarizes the historical evolution and policy framework of NBS in China, outlines the development of screening institutions, the spectrum and incidence of screened disorders, advances in detection technologies, and the establishment of QMS-NBS. It also highlights future priorities: expanding screened conditions, strengthening follow-up and long-term care, promoting regional equity, and advancing novel technologies to improve child health and foster precision public health.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13607846/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous <i>SMN1</i> Control.","authors":"Yuichi Abe, Sato Suzuki-Muromoto, Motomichi Kosuga, Tetsuya Isayama, Go Tajima, Yasuhito Aoki, Nobuyuki Ishige, Yushi Ito","doi":"10.3390/ijns12030071","DOIUrl":"10.3390/ijns12030071","url":null,"abstract":"<p><p>Newborn screening (NBS) facilitates the presymptomatic diagnosis and early treatment of spinal muscular atrophy (SMA). An analytical study was conducted to evaluate the performance and limitations of a real-time polymerase chain reaction-based SMA-NBS assay. Dried blood spot specimens collected from 21 newborns and three patients with genetically confirmed SMA were analyzed. The SMA controls included two patients with homozygous <i>SMN1</i> deletion and one with compound heterozygous <i>SMN1</i> variants. <i>SMN1</i> exon 7 copy numbers were quantified and interpreted. All newborn participants had <i>SMN1</i> copy numbers above the screening cutoff value of 668 copies/µL and were classified as screening-negative. The two SMA controls with homozygous <i>SMN1</i> deletion showed no detectable <i>SMN1</i> amplification, which is consistent with positive screening results. In contrast, the compound heterozygous SMA control exhibited a mean <i>SMN1</i> value of 7330 copies/µL, which was more than tenfold above the screening cutoff and would therefore have been classified as screening-negative; this value also fell within the range observed in the newborn cohort. This patient had a negative NBS result at birth despite subsequently developing genetically confirmed SMA. The SMA-NBS assay accurately detected patients with homozygous <i>SMN1</i> deletion. However, it did not identify patients with compound heterozygous <i>SMN1</i> variants. In conclusion, deletion-based SMA-NBS has an inherent false-negative limitation, and a negative screening result does not completely exclude an SMA diagnosis.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13607524/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of CLIR-Based Post-Analytical Tools to Dutch NBS Data Demonstrates Its Potential Impact on the Performance of CPT1, GA-1, IVA and MSUD Screening in a Disorder-Specific Way.","authors":"Nils W F Meijer, Rose E Maase, Patricia L Hall, Wouter F Visser, Klaas Koop, Annet M Bosch, M Rebecca Heiner-Fokkema, Monique G M de Sain-van der Velden","doi":"10.3390/ijns12030070","DOIUrl":"10.3390/ijns12030070","url":null,"abstract":"<p><p>Newborn screening (NBS) for inborn errors of metabolism is challenged by high false-positive rates, which may lead to parental anxiety and increased healthcare costs associated with diagnostic follow-up. False-positive results often arise from changes in metabolite concentrations that mimic metabolic disorders as a consequence of differences in perinatal factors or nutritional status. To address this, Collaborative Laboratory Integrative Reports (CLIR) and the associated post-analytical tools (PATs) using multivariate interpretation and covariate-adjusted reference intervals may be used to improve specificity of NBS algorithms. In the current study, we examined whether CLIR can be applied to optimize the Dutch NBS program by reducing the false-positive rates. We developed and validated a CLIR-based PAT for CPT1 deficiency, GA-I, IVA and MSUD within the Dutch NBS program. Single-condition tools (SCTs) and multivariate approaches, including marker ratios and covariate adjustments, were evaluated for their ability to discriminate true- and false-positive referrals. For CPT1 deficiency, age-adjusted SCT combined with birthweight, location correction, and the C18:1/methionine ratio substantially reduced false positives. For GA-I, C3DC-based ratios improved specificity while preserving true-positive detection, potentially reflecting postnatal renal immaturity in some cases. For IVA, the dual scatter plot fully separated true- and false-positive referrals, highlighting the limitations of single-marker screening. For MSUD, differences between false-positive and true-positive cases were more pronounced, yet a similar number of false positives were still referred; valine-related markers contributed to false positives, while leucine and the Xle/Phe ratio better identified true positives. CLIR-based post-analytical tools enhanced NBS specificity through covariate-aware, multivariate interpretation. This provides important input for decision makers in both the Dutch NBS, as well as the NBS community worldwide.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13607394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149038465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases.","authors":"Nils W F Meijer, Klaas Koop, Rose E Maase, Patricia L Hall, Wouter F Visser, Esmeralda Oussoren, Annet M Bosch, M Rebecca Heiner-Fokkema, Monique G M de Sain-van der Velden","doi":"10.3390/ijns12030069","DOIUrl":"10.3390/ijns12030069","url":null,"abstract":"<p><p>Since October 2019, screening for methylmalonic acidemia (MMA) has been implemented in the Dutch Newborn Screening (NBS) program. Since implementation, most referrals for MMA have been the result of (maternal) vitamin B12 deficiency. Although vitamin B12 deficiency is an important condition and early detection can confer health benefits, its identification was not the original objective of the screening. We therefore examined whether genetic forms of MMA can be distinguished from acquired forms. Early distinction between these forms is essential for guiding clinical management, informing prognosis, and enabling appropriate genetic counseling. Specifically, we tested whether the use of Collaborative Laboratory Integrated Reports (CLIR) to complement NBS results improved specificity of the test for genetic MMAs. We found that with the use of CLIR, genetic conditions including methylmalonyl-CoA mutase (mut) deficiency and cobalamin (cbl) A, B, C and D deficiency can be partially differentiated from acquired causes. This results in a significant reduction in the number of second-tier tests required. However, this approach may also exclude certain other genetic causes. Based on all findings, we provide considerations and implications for MMA screening that may inform decision-makers in (other) NBS programs.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510940/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates.","authors":"Andrey Marakhonov, Anna Mukhina, Irina Efimova, Natalya Balinova, Yulia Rodina, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, Sergey Kutsev","doi":"10.3390/ijns12030068","DOIUrl":"10.3390/ijns12030068","url":null,"abstract":"<p><p>Newborn screening (NBS) for primary immunodeficiencies (PIDs) increasingly incorporates kappa-deleting recombination excision circles (KREC) to enable early detection of B-cell lymphopenia, particularly agammaglobulinemia (AGG). However, optimal KREC cut-off values remain poorly defined, limiting sensitivity and contributing to high false-positive rates. We evaluated KREC-based NBS using data from a nationwide Russian program that screened more than 3.4 million newborns. KREC measurements from 66 patients with genetically confirmed AGG and 534 newborns with initially abnormal screening results but normal immunophenotyping were analyzed using statistical and ROC-based approaches. By using a KREC cut-off of 100 copies per 10⁵ cells in the first NBS sample and a KREC cut-off of 250 copies per 10⁵ cells after a polymerase chain reaction (PCR) test on a second dried blood spot (DBS) collected approximately 19 days later, the detection of classical and atypical X-linked AGG, other forms of AGG, and additional PIDs associated with B-cell lymphopenia was significantly improved. Retrospective analysis of a pilot cohort (n = 202,908) indicated that, if a KREC cut-off of 250 copies per 10⁵ cells was applied with the second PCR test, this adjustment would increase the proportion of screen-positive newborns to 2.75‱. To reduce the resulting referral burden, we assessed third KREC testing of a third DBS sample approximately 2 months after birth and showed that persistent KREC reduction distinguishes AGG from transient B-cell lymphopenia. We propose a revised three-step NBS algorithm incorporating a third PCR test with a cut-off of 850 copies per 10⁵ cells. This strategy reduces unnecessary referrals while maintaining diagnostic sensitivity and clinical safety, supporting implementation of adaptive, multistep NBS approaches.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening.","authors":"Judit García-Villoria, Rosa María López-Galera, Carmen Delgado-Pecellín, Dolores Rausell Félix, Cristóbal Colón, Hugo Rocha, Belén Pérez, Antonia Ribes, María Luz Couce, Domingo González-Lamuño","doi":"10.3390/ijns12030067","DOIUrl":"10.3390/ijns12030067","url":null,"abstract":"<p><p>Newborn screening (NBS) is a cornerstone of preventive medicine, enabling early diagnosis and treatment of severe congenital disorders. In Spain, despite the existence of a Basic Common Portfolio, the absence of a harmonized national panel has led to significant inter-regional variability, affecting equity in access to early diagnosis. The Spanish Uniform Screening Panel (SUSP) was developed through a structured nationwide consensus process involving all NBS centers in Spain, with additional input from Portugal. The process included a comprehensive survey of current practices, expert workshops, multiple consensus rounds, and predefined inclusion criteria. Disease nomenclature was standardized using OMIM and ORPHAcode identifiers. Conditions were classified as primary screening targets or secondary findings, and consensus was reached on confirmatory biochemical and genetic testing pathways. The operational dataset comprised 48 biomarker-based screening entries. Because some conditions can be detected through multiple primary markers, duplicate analytical routes were retained but counted once, resulting in a total 189 unique clinical conditions, including 87 primary and 102 secondary conditions. The SUSP represents the first nationwide harmonized framework for newborn screening in Spain and constitutes a major step toward equitable and standardized implementation. It provides a scalable model that may inform other countries facing similar disparities.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes.","authors":"Amy Gaviglio, Natasha Bonhomme, Barbara Burton, Norman Matthew Ellinwood, Joseph Muenzer, Kim Stephens, Ravi Pathak, Carolyn Schaeffer-Koziol","doi":"10.3390/ijns12030066","DOIUrl":"10.3390/ijns12030066","url":null,"abstract":"<p><p>Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome), is a rare X-linked lysosomal disease that leads to progressive tissue and organ damage. Early treatment is essential as most symptoms of MPS II are not reversible. Consequently, MPS II has been added to many newborn screening (NBS) programs. This narrative literature review provides practical recommendations from a multidisciplinary expert panel on the US-based NBS for MPS II and its diagnosis and clinical management. Recommendations for NBS programs include aiming for universal access to NBS within their jurisdiction, implementing tiered testing to support diagnostic accuracy, and providing infrastructure for confirmatory testing and post-screening support for families. Recommendations for health care providers (HCPs) include communicating test results empathetically and alongside verbal and written information, allowing families to express their feelings, and consulting an MPS II specialist to support treatment recommendations. The NBS programs and HCPs should work together to ensure positive screening results are communicated effectively and to provide equitable access to treatment and long-term care. Such a coordinated and appropriately resourced effort involving NBS programs, HCPs, and patient advocates will ensure better support for families and the best possible outcomes for individuals with MPS II.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimizing Informed Consent for Australian Newborn Bloodspot Screening and Research: Consensus Workshop Insights and Recommendations.","authors":"Carolyn Mazariego, Mahitha Ramanathan, Deborah A Johnston, Zhicheng Li, Brittany C McGill, Marina Okamura, Lauren Kelada, Ilona Juraskova, Claire E Wakefield, Natalie Taylor","doi":"10.3390/ijns12030065","DOIUrl":"10.3390/ijns12030065","url":null,"abstract":"<p><p>Informed consent is fundamental to Australian newborn bloodspot screening (NBS), but emerging genomic screening technologies pose new challenges to clinical care and research. Optimizing consent processes is necessary to support ethical practice and maintain public trust as NBS evolves. This study aimed to identify gaps and opportunities to improve NBS consent processes in Queensland, Australia, while also exploring preliminary insights into the evolving complexity of consent in the context of genomic NBS (gNBS) and NBS-related research. A qualitative study design was used, with two facilitated interest-holder workshops (a total of 12 h) involving 86 participants (healthcare professionals, policy-makers, researchers, genomics experts, and consumer representatives). Workshop 1 (<i>n</i> = 25) was held virtually, and Workshop 2 (<i>n</i> = 61) was held in person. Thematic analysis was used to identify practical recommendations and ethical considerations. Participants identified three priority domains for improving consent in Queensland's NBS program: (1) revision of the Guthrie Card and consent statement, (2) development of consistent, antenatal information resources across healthcare providers, and (3) standardized consent delivery training for healthcare staff. Discussions also highlighted tensions around information requirements for informed consent, revealing growing complexities regarding layered consent models. While recommendations on research consent were not fully developed at the workshop, insights highlighted the growing complexity and divergence of views on layered consent models. Findings suggest that improving NBS consent requires both operational reform and reassessment of ethical standards, alongside broader interest-holder engagement and feasible, scalable models also suited to genomic technologies. A nationally consistent framework is needed.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}