International Journal of Neonatal Screening最新文献

{"title":"The Variation in IRT in Different Ethnic Groups in England-Implications for a Newborn Screening Programme for CF in Diverse Multiethnic Populations.","authors":"Toby Greenfield, Lesley Tetlow, James R Bonham, Catherine Collingwood, Laura Wainwright, Liz Robinson, Dave Wright, Beverly Hird, Tejswurree Ramgoolam, Caroline Griffith, Lynette Shakespeare, Mehdi Mirzazadeh, Rachelle Garstone, Deborah Finnerty, Nick Flynn, Nazia Taj, Maya Desai","doi":"10.3390/ijns12020028","DOIUrl":"10.3390/ijns12020028","url":null,"abstract":"<p><p>Increasing ethnic diversity raises potential inequalities within screening programmes. In the UK, newborns are screened for CF by initially measuring IRT. Dried blood spot IRT levels above a set cut-off require follow-up testing to establish a screening result. Variation exists in IRT levels between different ethnicities and therefore impacts the number of potentially false positive results obtained from ethnic groups. Over a 4-year period, IRT data was collected, and the 99.5th centile was calculated for different ethnic groups. Significant differences were noticed between ethnic groups, and the CF outcome data over a 10-year period were then analysed to establish the effect this had on positive predictive values. The largest difference in IRT 99.5th centile values was seen between the White British and Black African groups. Positive predictive values for Black African and Indian ethnic groups were much lower than the other groups. Rather than try to incorporate ethnicity into the UK CF screening algorithm, we suggest making CF clinicians aware of the differences between different ethnic groups to inform counselling families who receive screen-positive results.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13214942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148030390","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":"21-Deoxycortisone: A Novel Sensitive and Specific Newborn Screening Marker for Congenital Adrenal Hyperplasia.","authors":"Mark de Hora, Natasha Heather, Dianne Webster, Benjamin B Albert, Paul Hofman","doi":"10.3390/ijns12020027","DOIUrl":"10.3390/ijns12020027","url":null,"abstract":"<p><p>21-deoxycortisol is a sensitive and specific blood marker for congenital adrenal hyperplasia (CAH). We postulated that 21-deoxycortisone, the 11β-hydroxysteroid dehydrogenase metabolite of 21-deoxycortisol, may also be an accurate bloodspot marker of CAH. Measurement of 21-deoxycortisone was performed on 42 residual NBS specimens with a true positive result for CAH, 11 with a false negative result, and 439 specimens with a false positive result. For this study, the test was considered positive if 21-deoxycortisone was detected. The sensitivity and specificity of 21-deoxycortisone as a marker for classical CAH was calculated and compared to 21-deoxycortisol data from a previous New Zealand study. The method for 21-deoxycortisone measurement was linear to 1000 nmol/L and precision was 7.3-10.3%. The lower limit of quantification was 2 nmol/L, and recovery was 99%. 21-deoxycortisone was ≥2 nmol/L in all 42 true positive samples and in 10 false negative samples, and was not detected in the false positive group of specimens. The sensitivity of 21-deoxycortisone was 98.1%, and specificity was 100%. In a previous study, the sensitivity of 21-deoxycortisol was 88.7% and specificity was 99.8% in 1910 newborn screening tests carried out between 2018 and 2021. Incorporating 21-deoxycortisone into a second-tier test and adjustment of primary screening protocols could improve the accuracy of newborn screening for CAH. Longer term prospective studies on the performance of 21-deoxycortisone are warranted.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13214666/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148030466","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":"Parental Views on the Psychosocial Impact of False-Positive Results Following Newborn Screening for Severe Combined Immunodeficiency in England.","authors":"Pru Holder, Chloe Musa, Anju Keetharuth, Fiona Ulph, Jim B Chilcott, Louise Moody, Ellinor K Olander, Jane Chudleigh","doi":"10.3390/ijns12020026","DOIUrl":"10.3390/ijns12020026","url":null,"abstract":"<p><p>The project aimed to explore the psychosocial impact on parents of receiving a false-positive outcome following a positive newborn bloodspot screening (NBS) result for SCID for their child. A mixed-methods design was employed using semi-structured interviews and standardised health-related questionnaires (EQ-5D-5L, ITQOL-47, and GAD-7). The participants were recruited from six National Health Service hospital trusts in England involved in the NHS England In-Service Evaluation of Screening for SCID. A total of 22 interviews were conducted with 28 parents. Health-related questionnaire data were collected from 26 of these parents. The interviews were analysed using a reflexive deductive approach to thematic analysis. For the health-related questionnaire data, a comparison of group means against population norms was undertaken using <i>t</i>-tests with unequal variances. The findings from the interviews showed that receiving a false-positive outcome following a positive NBS SCID result could cause parents to have an enhanced view of their child's vulnerability in the short term. However, negative sequelae were largely mitigated as parents viewed their child's exposure to 'normal' infections as evidence of a functional immune system. The health-related questionnaire data showed that the parents had significantly worse health than the population norm (as indicated by EQ-VAS: <i>p</i> = 0.0296); however, all the other measures were non-significant. More research is needed to explore the potential longer-term psychosocial impact of a false-positive screening result for SCID on parents beyond their child's first year of life.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13204667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771148","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":"<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.","authors":"Zinandré Stander, Amy L White, Matthew Lynch, David Coman, Justin Rosati, Diana Bailey, Jessica Johnson, Bo Hoon Lee, ChinTo Fong, Joseph Orsini, Matthew J Schultz, Devin Oglesbee, Dimitar Gavrilov, Dietrich Matern, Patricia L Hall, Silvia Tortorelli","doi":"10.3390/ijns12020025","DOIUrl":"10.3390/ijns12020025","url":null,"abstract":"<p><p><i>COASY</i>-related disorders (CRDs) are a spectrum of autosomal recessive conditions caused by the dysfunction of CoA synthase, an enzyme responsible for the final steps of CoA synthesis. Clinical manifestations of CRDs are highly variable, ranging from perinatal lethal pontocerebellar hypoplasia to childhood-onset neurodegenerative brain iron accumulation, which is often recognized after clinical regression. Recent reports have described a few individuals with CRD who screened positive for carnitine palmitoyltransferase-I deficiency by newborn screening (NBS). However, heterogeneous clinical presentations, conflicting biochemical/molecular sequencing of CPT1A, and a lack of metabolic characterization have led to lengthy, costly diagnostic journeys. To address some of these aspects, this investigation retrospectively evaluated NBS acylcarnitine patterns in five CRD cases using Collaborative Laboratory Integrated Reports (CLIR). A total of 25 metabolites/ratios were identified to deviate significantly from reference ranges and were primarily composed of elevated free carnitine and reduced long-chain acylcarnitine levels. While low acylcarnitine concentrations are often not reported due to a lack of lower reference cutoffs, ratios involving these metabolites relative to short-chain acylcarnitines could aid in identifying CRD cases via NBS. When comparing this pattern to CPT-Ia cases, we confirmed a nearly identical acylcarnitine pattern between these, and thus support the need to consider CRD in cases with NBS results suggestive of CPT-Ia. This study is the first case series to characterize NBS patterns in patients with CRD and highlights the unique opportunity for early detection, particularly in cases that are neonatally asymptomatic and have unremarkable confirmatory biochemical results.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147770987","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":"Evaluation of Implementation of Newborn Screening for Sickle Cell Disease Program in Selected Hospitals in Dar es Salaam, Tanzania.","authors":"Tunganege Matipa, Elia Nyangi, Agnes Jonathan, Mwashungi Ally, Lulu Chirande, Asteria Mpoto, Emmanuel Balandya, Gladys Reuben Mahiti","doi":"10.3390/ijns12020024","DOIUrl":"10.3390/ijns12020024","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a major public health concern in Tanzania where approximately 11,000 children are born with the condition annually. Newborn screening (NBS) enables early diagnosis and timely intervention. Despite the proven effectiveness of NBS in reducing early mortality from SCD, implementation in Tanzania remains limited to pilot programs at facilities such as Temeke and Amana Regional Referral Hospitals (RRHs) in the city of Dar-es-salaam. This study evaluated the implementation of NBS for the SCD Program at Temeke and Amana RRHs. An explanatory mixed-methods process evaluation was conducted between January 2022 and December 2024. Quantitative data were extracted from hospital registries and REDCap, while qualitative data were obtained from key informant interviews with 17 healthcare workers. Quantitative data were analyzed using SPSS v29.0, while qualitative transcripts were thematically analyzed using NVivo software version 15 to explore operational factors influencing implementation. A total of 10,711 newborns were screened across the two hospitals. Seventy-four (0.70%) newborns had homozygous SCD (HbS/S), whereas 1325 (12.53%) had sickle cell trait (HbA/S). Enrolment of infants diagnosed with SCD into comprehensive care declined substantially over time, from 65.6% in 2022 to 10.5% in 2024 at Temeke RRH, while Amana RRH recorded no enrolments beyond the first year of implementation. Qualitative findings highlighted facilitators for NBS such as maternal awareness, interdepartmental collaboration, and the availability of trained staff. However, implementation was hindered by inadequate refresher training, delayed staff incentives, supply shortages, and parental hesitancy influenced by cultural beliefs. This evaluation found a substantial decline in enrolment of newborns diagnosed with SCD into comprehensive care, driven by key operational challenges. Although early implementation benefited from trained, committed staff and interdepartmental collaboration, sustainability was limited by inadequate refresher training, delayed incentives, supply shortages, and parental hesitancy. Addressing these gaps through regular capacity building, strengthened supply chains, timely incentives, and culturally sensitive community education is critical to improving enrolment, continuity of care, and informing national scale-up of NBS for SCD in Tanzania.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771124","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":"A Systematic Process to Accurately Link Large-Scale Research Consents to State Public Health Newborn Screening Samples.","authors":"Emily Cheves, Hannah E Frawley, Angela You Gwaltney, Ana N Forsythe, Samantha Scott, John Colin Mathews, Jake Dibble, Tanya Reeve, Vesselina Bakalov, Manisha Dass, Heidi L Cope, Curt Scharfe, Holly Peay","doi":"10.3390/ijns12020023","DOIUrl":"10.3390/ijns12020023","url":null,"abstract":"<p><p>Research programs can interface with public health programs to generate innovation, yet it is critical to ensure processes that support research activities without infringing on protected data. Genomic newborn screening (gNBS) research programs require reliable methods to link parental consents to the correct newborn screening (NBS) specimen. Early Check is a gNBS research program in North Carolina that uses the residual dried bloodspot (DBS) samples stored at the North Carolina State Laboratory of Public Health (NCSLPH) to screen babies for serious health conditions. Early Check created a systematic approach to match research consents with NBS DBS samples utilizing a fuzzy matching algorithm and manual review of prospective matches utilizing a decision tree. Between 28 September 2023, and 10 June 2025, Early Check received parental consents for 4279 newborns. Of those, 614 (14%) had discrepancies that required further review. More than half of these (349, 57%) required outreach to the consenting parent to resolve differences in information such as name, infant sex, or contact details. The use of probabilistic matching, a decision tree, and structured staff review provides a feasible approach for accurately identifying samples from consented NBS participants.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771060","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":"Acid Sphingomyelinase Activity in Dried Blood Spot from Neonatal Intensive Care Unit-Admitted Neonates: A Pilot Study for Expanded Newborn Screening in Japan.","authors":"Akie Kato, Atsuko Noguchi, Hiroyuki Adachi, Kiichi Takahashi, Masato Ito, Tomoo Ito, Shozo Ota, Hirokazu Arai","doi":"10.3390/ijns12020022","DOIUrl":"10.3390/ijns12020022","url":null,"abstract":"<p><p>Acid sphingomyelinase deficiency (ASMD) is currently treatable with olipudase alfa, increasing the need for early newborn screening (NBS). We conducted a two-center pilot cohort study to characterize dried blood spot (DBS) acid sphingomyelinase (ASM) activity in Japanese neonates in the neonatal intensive care unit (NICU). ASM activity was measured by flow injection-tandem mass spectrometry in 244 NICU-admitted neonates (gestational age 25-41 weeks; birth weight 773-4201 g); longitudinal paired samples were available in 34 neonates with birth weight < 2000 g and concurrent hematology in 43 neonates. The mean ASM activity was 3.7 ± 1.2 μmol/h/L (95% confidence interval, 3.54-3.84; range, 1.7-11.6), with a right-skewed distribution. ASM activity correlated positively with birth weight (r = 0.184, <i>p</i> = 0.0039), gestational age (r = 0.219, <i>p</i> = 0.0006), and lymphocyte count (ρ = 0.394, <i>p</i> = 0.0089) and negatively with hematocrit (ρ = -0.372, <i>p</i> = 0.014). In neonates with a birth weight < 2000 g, ASM increased significantly on repeat sampling (mean difference, 1.60 μmol/h/L; <i>p</i> < 0.0001; Cohen's d = 0.912). These findings support NICU-specific reference ranges, hematology-informed interpretations, repeat testing after maturation, and the use of second-tier biomarkers for ASMD NBS implementation in Japan.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771086","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":"Cost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan.","authors":"Keiko Konomura, Motoko Tanaka, Go Tajima, Eri Hoshino","doi":"10.3390/ijns12020021","DOIUrl":"10.3390/ijns12020021","url":null,"abstract":"<p><p>We conducted a cost-effectiveness analysis of a universal newborn screening (NBS) program for infantile-onset Pompe disease (IOPD) compared with clinical identification in newborns. The analytical model combined a decision tree and a Markov model. The incremental cost-effectiveness ratio (ICER) was estimated over a lifetime horizon, applying a 2% annual discount rate from the public healthcare payer's perspective. In a cohort of 727,288 individuals, 2.4 patients were expected to have IOPD. The cumulative quality-adjusted life years (QALYs) gained per patient were estimated to be 7.9 when clinically diagnosed and treated with enzyme replacement therapy, and 28.9 when identified through universal NBS. The ICER was 174 million JPY per QALY. Sensitivity and scenario analyses indicated that the parameters most affecting the ICER were the NBS test cost, the quality-of-life value for ambulatory patients, the prevalence of IOPD, and the cost of enzyme replacement therapy. Although considerable uncertainty exists in the analysis, the findings suggest that implementing NBS solely for detecting infantile-onset cases poses challenges in terms of cost-effectiveness, primarily due to the rarity of the disease and the high costs associated with testing and treatment.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108023/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771108","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":"A Survey of Current Australasian Practices in the Use of Residual Bloodspots for the Addition of a New Disorder to the Screening Panel.","authors":"Lawrence Greed, James Pitt, Ronda F Greaves, Kate Coleman, Gabrielle Crisp, Enzo Ranieri, Mark de Hora, Dianne Webster, Natasha Heather","doi":"10.3390/ijns12020020","DOIUrl":"10.3390/ijns12020020","url":null,"abstract":"<p><p>Newborn screening (NBS) bloodspots are primarily used to test for a defined panel of conditions, yet screening expansion has necessitated the implementation of new tests. Integral to test implementation across all clinical laboratories is the need to evaluate the method with clinical samples, and a common secondary use of residual bloodspots, which are samples that remain following conventional screening, is validating new testing methods by establishing \"normal\" analyte concentrations and setting action decision limits for NBS protocols prior to implementation. Analysis of de-identified residual bloodspots may potentially reveal an infant with a treatable condition, and re-identification and clinical notification of the infant may then be prudent. However, consent to test residual samples for conditions under implementation may not have been obtained. This ethical dilemma risks the inclusion of residual bloodspots in test development being declined by over-arching NBS authorities. Consequently, the Human Genetics Society of Australasia (HGSA) NBS Committee issued a survey to the Australasian NBS laboratories regarding the current practices of the use of residual bloodspots for new test implementation. The questionnaire revealed a consistent requirement for residual NBS bloodspot analysis to determine reference ranges and screening cutoffs for biochemical variants. If using de-identified residual samples as a component of test validation, re-identification of infants with out-of-range results for clinical referral was considered ethically justified for potentially treatable conditions. The survey results will be used to develop a consensus approach in the region that is both ethically and scientifically valid.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771099","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":"A Multi-Stakeholder Perspective on Integrating Genomic Sequencing into Newborn Screening: An Interview Study.","authors":"Saskia G Smits, Suzanne M Onstwedder, Tessel Rigter, Wendy Rodenburg, Lidewij Henneman","doi":"10.3390/ijns12020019","DOIUrl":"10.3390/ijns12020019","url":null,"abstract":"<p><p>Interest in the genomic sequencing of healthy newborns has raised a discussion on whether this technology should be introduced into existing newborn screening (NBS) programs. This qualitative study explores a multi-stakeholder perspective on the future of genomic sequencing in NBS. Semi-structured interviews were conducted with 26 professionals involved in NBS or in clinical genome sequencing in the Netherlands. Participants highlighted opportunities such as the possibility to use one test for a wide range of genetic conditions, reducing diagnostic odyssey, expanding the scope of NBS, and increasing program efficiency. Challenges were raised regarding genetic variant interpretation, expected increased parental anxiety, data privacy issues, difficulties with information provision, and high costs. Three areas of tension between participants' perspectives were identified: screening strategy, screening performance, and roles and responsibilities. It was emphasized that implementing genomic sequencing should not risk reducing the current high NBS participation, and that enhancing knowledge, communication, and collaboration between all stakeholders is needed. Although most participants did not believe genomic sequencing as a first-tier test is currently desirable and feasible, they acknowledged it has a role to play in the future of NBS. Future decision-making should consider the potential impact on the participation rate, program quality, and balancing benefits and harms.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13108013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771063","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}