International Journal of Neonatal Screening最新文献

{"title":"Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events.","authors":"José Manuel González de Aledo-Castillo, Ana Argudo-Ramírez, David Beneitez-Pastor, Anna Collado-Gimbert, Francisco Almazán Castro, Sílvia Roig-Bosch, Anna Andrés-Masó, Anna Ruiz-Llobet, Georgina Pedrals-Portabella, David Medina-Santamaria, Gemma Nadal-Rey, Marina Espigares-Salvia, Maria Teresa Coll-Sibina, Marcelina Algar-Serrano, Montserrat Torrent-Español, Pilar Leoz-Allegretti, Anabel Rodríguez-Pebé, Marta García-Bernal, Elisabet Solà-Segura, Amparo García-Gallego, Blanca Prats-Viedma, Rosa María López-Galera, Abraham J Paredes-Fuentes, Sonia Pajares García, Giovanna Delgado-López, Adoración Blanco-Álvarez, Bárbara Tazón-Vega, Cristina Díaz de Heredia, María Del Mar Mañú-Pereira, José Luis Marín-Soria, Judit García-Villoria, Pablo Velasco-Puyó, On Behalf Of The Sickle Cell Disease Newborn Screening Group Of Catalonia","doi":"10.3390/ijns10040069","DOIUrl":"https://doi.org/10.3390/ijns10040069","url":null,"abstract":"<p><p>In 2015, Catalonia introduced sickle cell disease (SCD) screening in its newborn screening (NBS) program along with standard-of-care treatments like penicillin, hydroxyurea, and anti-pneumococcal vaccination. Few studies have assessed the clinical impact of introducing NBS programs on SCD patients. We analyzed the incidence of SCD and related hemoglobinopathies in Catalonia and the change in clinical events occurring after introducing NBS. Screening 506,996 newborns from 2015 to 2022, we conducted a retrospective multicenter study including 100 screened (SG) and 95 unscreened (UG) SCD patients and analyzed SCD-related clinical events over the first six years of life. We diagnosed 160 cases of SCD, with an incidence of 1 in 3169 newborns. The SG had a significantly lower median age at diagnosis (0.1 y vs. 1.68 y, <i>p</i> < 0.0001), and initiated penicillin prophylaxis (0.12 y vs. 1.86 y, <i>p</i> < 0.0001) and hydroxyurea treatment earlier (1.42 y vs. 4.5 y, <i>p</i> < 0.0001). The SG experienced fewer median SCD-related clinical events (vaso-occlusive crisis, acute chest syndrome, infections of probable bacterial origin, acute anemia requiring transfusion, acute splenic sequestration, and pathological transcranial Doppler echography) per year of follow-up (0.19 vs. 0.77, <i>p</i> < 0.0001), a reduced number of annual emergency department visits (0.37 vs. 0.76, <i>p</i> < 0.0001), and fewer hospitalizations (0.33 vs. 0.72, <i>p</i> < 0.0001). SCD screening in Catalonia's NBS program has effectively reduced morbidity and improved affected children's quality of life.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500437","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":"Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.","authors":"Haili Hu, Qingqing Ma, Weidong Li, Yan Wang, Wangsheng Song, Yong Huang","doi":"10.3390/ijns10040068","DOIUrl":"https://doi.org/10.3390/ijns10040068","url":null,"abstract":"<p><p>Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation with highly variable biochemical and genetic characteristics. The present study aimed to estimate the prevalence and genetic characteristics of SCADD in newborns identified through screening. A total of 782,930 newborns were screened for SCADD in Hefei Neonatal Screening Center from January 2016 to December 2023. The blood samples from newborns were measured by tandem mass spectrometry (MS/MS). The suspected SCADD neonates were rechecked using next-generation gene sequencing for diagnosis. Sanger sequencing was used to verify the mutation site for patients with SCADD and their parents. A total of 21 SCADD cases were confirmed, with an incidence rate of 1/37,282. Genetic mutations were identified in all 21 cases, including 15 cases of compound heterozygous variation and 6 cases of homozygous variation. Twenty-one different mutation types and forty-two mutation sites were discovered, with the most frequent mutation being c.1031A>G, accounting for 21.43% (9/42), followed by c.1130C>T, accounting for 16.67% (7/42). Our findings expand the SCADD mutational spectra. c. 1031A>G and c.1130C>T are the common mutation sites for SCADD genes in newborns. SCADD diagnosed through NBS is primarily a benign condition, and early diagnosis is not necessarily essential.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500438","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 Novel Newborn Screening Program for Sickle Cell Disease in Nigeria.","authors":"Aisha A Galadanci, Umma A Ibrahim, Yvonne Carroll, Yusuf D Jobbi, Zubaida L Farouk, Aisha Mukaddas, Nafiu Hussaini, Bilya Sani Musa, Lauren J Klein, Michael R DeBaun","doi":"10.3390/ijns10040067","DOIUrl":"https://doi.org/10.3390/ijns10040067","url":null,"abstract":"<p><p>Newborn screening for sickle cell disease (SCD) is sparse in sub-Saharan Africa. The leadership of the Aminu Kano Teaching Hospital (AKTH) in Kano, Nigeria, with the support of local religious authorities, established a groundbreaking SCD newborn screening program that has become the standard of care for pregnant women and their newborns. Our program includes (1) prenatal genetic counseling for all pregnant women in the antenatal clinic, (2) newborn screening, (3) postnatal genetic counseling for parents of newborns diagnosed with SCD and SCT, and (4) referral of newborns with SCD for follow-up in the SCD Comprehensive Care Clinic by 3 months of age. From September 2020 to December 2023, the team screened 7530 infants for SCD at the AKTH, identifying 126 (1.7%) infants with SCD and 1546 (20.5%) with SCT. Of these, 93 (73.8%) newborns with SCD received individualized genetic counseling, and 43 (46%) were referred to the SCD Comprehensive Care Clinic before 3 months. Group genetic counseling was provided to the parents of 778 (50.3%) of newborns identified with SCT. The SCD newborn screening at the AKTH is now standard care, indicating the viability of sustaining an SCD newborn screening program that provides pre- and postnatal genetic counseling and comprehensive SCD care within a low-income setting.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503303/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500433","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":"Reply to Bouva et al. Comment on \"Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. <i>Int. J. Neonatal Screen.</i> 2023, <i>9</i>, 66\".","authors":"Allysa M Dijkstra, Kimber Evers-van Vliet, M Rebecca Heiner-Fokkema, Frank A J A Bodewes, Dennis K Bos, József Zsiros, Koen J van Aerde, Klaas Koop, Francjan J van Spronsen, Charlotte M A Lubout","doi":"10.3390/ijns10040066","DOIUrl":"https://doi.org/10.3390/ijns10040066","url":null,"abstract":"<p><p>We thank the authors for their comments [...].</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500439","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":"Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. <i>Int. J. Neonatal Screen.</i> 2023, <i>9</i>, 66.","authors":"Marelle J Bouva, Rose E Maase, Ruurd M van Elburg","doi":"10.3390/ijns10040065","DOIUrl":"https://doi.org/10.3390/ijns10040065","url":null,"abstract":"<p><p>The assessment of newborn screening (NBS) algorithms' performance to ensure quality improvements is a continuous process: false-positive referrals can enable optimisations in the shorter term, but false-negative referrals are often only discovered many years after the screening has taken place [...].</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 4","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500435","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":"Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey.","authors":"Yekaterina Unnikumaran, Mei Lietsch, Amy Brower","doi":"10.3390/ijns10030064","DOIUrl":"10.3390/ijns10030064","url":null,"abstract":"<p><p>From 2008 to 2024, the Newborn Screening Translational Research Network (NBSTRN), part of the National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Program, served as a robust infrastructure to facilitate groundbreaking research in newborn screening (NBS), public health, rare disease, and genomics. Over its sixteen years, NBSTRN developed into a significant international network, supporting innovative research on novel technologies to screen, diagnose, treat, manage, and understand the natural history of more than 280 rare diseases. The NBSTRN tools and resources were used by a variety of stakeholders including researchers, clinicians, state NBS programs, parents, families, and policy makers. Resources and expertise for the newborn screening community in ethical, legal, and social issues (ELSI) has been an important area of focus for the NBSTRN and this includes efforts across the NBS system from pilot studies of candidate conditions to public health implementation of screening for new conditions, and the longitudinal follow-up of NBS-identified individuals to inform health outcomes and disease understanding. In 2023, the NBSTRN conducted a survey to explore ELSI issues in NBS research, specifically those encountered by the NBS community. Since NBS research involves collaboration among researchers, state NBS programs, clinicians, and families, the survey was broadly designed and disseminated to engage all key stakeholders. With responses from 88 members of the NBS community, including researchers and state NBS programs, the survey found that individuals rely most on institutional and collegial resources when they encounter ELSI questions. Most survey responses ranked privacy as extremely or very important in NBS research and identified the need for policies that address informed consent in NBS research. The survey results highlight the need for improved collaborative resources and educational programs focused on ELSI for the NBS community. The survey results inform future efforts in ELSI and NBS research in the United States (U.S.) and the rest of the world, including the development of policies and expanded ELSI initiatives and tools that address the needs of all NBS stakeholders.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11417897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287122","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":"Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates.","authors":"Ronda F Greaves, Jo-Ann Northfield, Lauren Cross, Nazha Mawad, Thanh Nguyen, Maggie Tan, Michele A O'Connell, James Pitt","doi":"10.3390/ijns10030063","DOIUrl":"10.3390/ijns10030063","url":null,"abstract":"<p><p>Some preterm and sick neonates have altered biochemical profiles and follow-up newborn screening (NBS) collections are recommended. The Victorian NBS program historically recommended repeat collections for babies with birth weight < 1500 g (managed by the maternity service provider) and 3 weeks post-transfusion (managed by the laboratory). We aimed to determine adherence to current guidelines and review the guidelines to improve NBS performance. To do this, we audited data from 348,584 babies between January 2018 and June 2022. Babies with a recorded birth weight of <1500 g were filtered for inclusion. For the overall review and visualization of the protocol, we sourced information from the literature, our professional society and tertiary hospital services. A total of 2647 babies had a birth weight recorded between 200 and 1499 g. Of these, 2036 (77%) had a second sample collected, indicating that >1 in 5 babies were not receiving a follow-up collection. Our timing of repeat collections for transfused babies, requiring a 3-week follow-up collection, was longer than in other Australasian jurisdictions. A new combined \"sick-prem protocol\" was launched to support repeat collections and after a 1-year review achieved 95% compliance. We recommend NBS laboratories audit preterm and sick neonate repeat collections to ensure appropriate follow-up. This should be supported with a visual process map to aid education and compliance.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11417707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287125","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":"Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?","authors":"Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G Okun, Christian P Schaaf, Eva C Winkler, Stefan Kölker","doi":"10.3390/ijns10030062","DOIUrl":"10.3390/ijns10030062","url":null,"abstract":"<p><p>Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for NBS are still based on the Wilson and Jungner (WJ) criteria published in 1968. Despite this uniform reference, interpretation of the WJ criteria and actual disease selection for NBS programs are highly variable. A systematic literature search [PubMED search \"Wilson\" AND \"Jungner\"; last search 16.07.22] was performed to evaluate the applicability of the WJ criteria for current and future NBS programs and the need for adaptation. By at least two reviewers, 105 publications (systematic literature search, N = 77; manual search, N = 28) were screened for relevant content and, finally, 38 publications were evaluated. Limited by the study design of qualitative text analysis, no statistical evaluation was performed, but a structured collection of reported aspects of criticism and proposed improvements was instead collated. This revealed a set of general limitations of the WJ criteria, such as imprecise terminology, lack of measurability and objectivity, missing pediatric focus, and absent guidance on program management. Furthermore, it unraveled specific aspects of criticism on clinical, diagnostic, therapeutic, and economical aspects. A major obstacle was found to be the incompletely understood natural history and phenotypic diversity of rare diseases prior to NBS implementation, resulting in uncertainty about case definition, risk stratification, and indications for treatment. This gap could be closed through the systematic collection and evaluation of real-world evidence on the quality, safety, and (cost-)effectiveness of NBS, as well as the long-term benefits experienced by screened individuals. An integrated NBS public health program that is designed to continuously learn would fulfil these requirements, and a multi-dimensional framework for future NBS programs integrating medical, ethical, legal, and societal perspectives is overdue.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11417796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287126","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 Qualitative Study on Engaged Families' Experiences with Long-Term Follow-Up Care in the Colorado/Wyoming Newborn Screening System.","authors":"Stacey Quesada, Lauren Barringer, Marci K Sontag, Yvonne Kellar-Guenther","doi":"10.3390/ijns10030061","DOIUrl":"10.3390/ijns10030061","url":null,"abstract":"<p><p>Understanding whether the long-term follow-up (LTFU) system is working for families is critical to measuring the success of newborn screening (NBS) and understanding why some families are lost to follow-up. Caregivers were recruited from six pediatric specialty care clinics. Data were gathered from caregivers via five focus groups and one individual interview (<i>n</i> = 24). Caregiver participants represented a wide range of children's ages and conditions identified through NBS. While this is not the first study to gather caregivers' input on LTFU, it provides a wide breadth of perspectives (e.g., metabolic, endocrine, hemoglobinopathy, etc.). When asked about goals for their children, caregivers identified health-related goals (i.e., children able to care for themselves, not hindered by diagnosis) and non-health related goals (i.e., defining themselves outside of disease, participating in sports, making friends). In describing the LTFU care they want and need for their child and the key factors that influence access and engagement, caregivers identified three themes: communication and relationships with providers; care team roles and factors; and care access and utilization factors. The themes identified are not disjointed; they are intertwined and illustrate the lived experiences of a sample of families engaged in LTFU care.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11417874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287121","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":"Consistency in the Assessment of Dried Blood Spot Specimen Size and Quality in U.K. Newborn Screening Laboratories.","authors":"Stuart J Moat, James R Bonham, Christine Cavanagh, Margaret Birch, Caroline Griffith, Lynette Shakespeare, Clare Le Masurier, Claire Manfredonia, Beverly Hird, Philippa Goddard, Sarah Smith, Laura Wainwright, Rachel S Carling, Jennifer Cundick, Fiona Jenkinson, Catherine Collingwood, Nick Flynn, Nazia Taj, Mehdi Mirzazadeh, Tejswurree Ramgoolam, Liz Robinson, Amy Headley, Tessa Morgan, David Elliman, Lesley Tetlow","doi":"10.3390/ijns10030060","DOIUrl":"10.3390/ijns10030060","url":null,"abstract":"<p><p>In 2015, U.K. newborn screening (NBS) laboratory guidelines were introduced to standardize dried blood spot (DBS) specimen quality acceptance and specify a minimum acceptable DBS diameter of ≥7 mm. The UK 'acceptable' avoidable repeat rate (AVRR) is ≤2%. To assess inter-laboratory variability in specimen acceptance/rejection, two sets of colored scanned images (<i>n</i> = 40/set) of both good and poor-quality DBS specimens were distributed to all 16 U.K. NBS laboratories for evaluation as part of an external quality assurance (EQA) assessment. The mean (range) number of specimens rejected in the first EQA distribution was 7 (1-16) and in the second EQA distribution was 7 (0-16), demonstrating that adherence to the 2015 guidelines was highly variable. A new minimum standard for DBS size of ≥8 mm (to enable a minimum of six sub-punches from two DBS) was discussed. NBS laboratories undertook a prospective audit and demonstrated that using ≥8 mm as the minimum acceptable DBS diameter would increase the AVRR from 2.1% (range 0.55% to 5.5%) to 7.8% (range 0.55% to 22.7%). A significant inverse association between the number of specimens rejected in the DBS EQA distributions and the predicted AVVR (using ≥8 mm minimum standard) was observed (r = -0.734, <i>p</i> = 0.003). Before implementing more stringent standards, the impact of a standard operating procedure (SOP) designed to enable a standardized approach of visual assessment and using the existing ≥7 mm diameter (to enable a minimum of four sub-punches from two DBS) as the minimum standard was assessed in a retrospective audit. Implementation of the SOP and using the ≥7 mm DBS diameter would increase the AVRR from 2.3% (range 0.63% to 5.3%) to 6.5% (range 4.3% to 20.9%). The results demonstrate that there is inconsistency in applying the acceptance/rejection criteria, and that a low AVVR is not an indication of good-quality specimens being received into laboratories. Further work is underway to introduce and maintain standards without increasing the AVRR to unacceptable levels.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11417764/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287124","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}