International Journal of Neonatal Screening最新文献

{"title":"Correction: Hall et al. Oral and Poster Abstracts of the 13th ISNS European Regional Meeting. <i>Int. J. Neonatal Screen.</i> 2025, <i>11</i>, 21.","authors":"Kate Hall, Peter C J I Schielen, Dimitris Platis","doi":"10.3390/ijns11030049","DOIUrl":"10.3390/ijns11030049","url":null,"abstract":"<p><p>The authors wish to make the following correction to their paper published in the <i>International Journal of Neonatal Screening</i> [...].</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12258152/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144626295","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":"Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program.","authors":"Lacey Vermette, Jon Washburn, Tracy Klug","doi":"10.3390/ijns11020048","DOIUrl":"10.3390/ijns11020048","url":null,"abstract":"<p><p>Newborn screening laboratories are increasingly adding lysosomal storage disorders (LSDs), such as Mucopolysaccharidosis I (MPS I) and Pompe disease, to their screening panels. Without newborn screening, LSDs are frequently diagnosed only after the onset of symptoms; late detection can lead to profound and irreversible organ damage and mortality. While screening of these disorders has accelerated over the past five years, there is little published information regarding the potential correlation of demographic variables (age at sample collection, birthweight, gestational age, gender, etc.) with lysosomal enzyme activity. The Missouri State Public Health Laboratory prospectively screened more than 475,000 newborns for MPS I, Pompe disease, Gaucher disease, and Fabry disease between 15 January 2013 and 15 May 2018. This report investigates trends between several demographic variables and activities of four lysosomal enzymes: α-L-iduronidase (IDUA), acid α-glucosidase (GAA), acid β-glucocerebrosidase (GBA), and acid α-galactosidase (GLA). This information provides a valuable resource to newborn screening laboratories for the implementation of screening for lysosomal storage disorders and the establishment of screening cutoffs.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12193128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484320","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":"Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency.","authors":"Haijuan Zhi, Siyu Chang, Ting Chen, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Xuefan Gu, Lianshu Han","doi":"10.3390/ijns11020047","DOIUrl":"10.3390/ijns11020047","url":null,"abstract":"<p><strong>Background: </strong>Newborns are referred primary carnitine deficiency (PCD) when a low free carnitine (C0) concentration (<10 μmol/L) is detected, leading to high false-positive referrals. To improve the follow-up protocol for PCD, various acylcarnitines and the summations were comprehensively evaluated in the present study.</p><p><strong>Methods: </strong>A retrospective study was performed using samples due to low C0 concentration. Data were available for 72 patients with genetically confirmed PCD, whereafter C0 with the selected sum of (butyrylcarnitine (C4) + isovalerylcarnitine (C5)) was validated in an additional cohort study including about 80,000 samples.</p><p><strong>Results: </strong>In the discovery study, C4, acetylcarnitine (C2) and C5 exhibited significant discriminant power in distinguishing PCDs from NoPCDs. The area under the ROC curve (AUC) was 99.792% (C4), 98.715% (C2) and 98.620% (C5). The excellent performances in sensitivity, specificity, negative predictive value, positive predictive value (PPV) and accuracy indexes suggested that C4, C2 and C5 would be ideal auxiliary indicators in improving the diagnostic performance of C0 for PCD. Multivariate ROC curve-based exploratory analysis showed that C5, C4 and C2 were the most top-ranked features in differentiating PCDs from NoPCDs. AUC for C4 + C5 was the highest with a cutoff required for 100% sensitivity at 0.181 μmol/L. In the validation cohort, adding C4 + C5 in the NBS program could elevate PPV from 0.75% to 1.54%.</p><p><strong>Conclusions: </strong>Our work revealed that C4 + C5 summation should be used as the auxiliary quantization indicator to reduce false-positive results for PCD.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484321","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":"Nationwide Survey on Neonatal Critical Congenital Cardiopathies in Mexico: Data from 76 Public Health Service Hospital Units.","authors":"Nina Mendez-Dominguez, Ely Sanchez-Felix, Joan Johnson-Herrera, Miguel Santaularia-Tomas, Andres Ku-Gonzalez, Luis Baeza-Herrera, Adriel Ismael Alonso-Batun, Marcos Rivero-Peraza, Humberto Camara-Conde, Amonario Olivera-Mar, Russel Camara-Beltran","doi":"10.3390/ijns11020046","DOIUrl":"10.3390/ijns11020046","url":null,"abstract":"<p><p>When the resources are available, critical congenital heart diseases (CCHDs) should ideally be detected in utero; however, their later detection at birth can still reduce negative outcomes and risks. This study aimed to assess the extent of cardiac screening implementation in a national sample of hospitals within Mexico's public health services. A cross-sectional survey was conducted to identify the barriers and facilitators to neonatal screening using a sample of 76 hospitals. The descriptive statistics and associations were analyzed, with significance set at <i>p</i> < 0.05. Only 12% of hospitals reported the routine implementation of CCHD screening, while 20% used variable screening criteria. A potential mandatory implementation of CCHD screening was associated with increased odds of perceiving the lack of protocols and guidelines as a barrier. The most frequently reported obstacles involved a lack of the following: equipment, designated physical space, trained personnel, and adequate training. Nevertheless, the facilitators identified suggest that when combined with standardized guidelines and protocols, routine nationwide implementation may be achievable.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484326","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":"ISNS General Guidelines for Neonatal Bloodspot Screening 2025.","authors":"Dianne Webster, Amy Gaviglio, Aysha Habib Khan, Mei Baker, David Cheillan, Layachi Chabraoui, Ghassan Abdoh, Juan Cabello, Roberto Giugliani, Dimitris Platis, Jan Østrup, R Rodney Howell, Peter C J I Schielen, James R Bonham","doi":"10.3390/ijns11020045","DOIUrl":"10.3390/ijns11020045","url":null,"abstract":"<p><p>Part of the vision of the ISNS is 'to enhance the quality of neonatal screening and medical services through dissemination of information, guidelines and best practices.' Although newborn screening encompasses testing in the newborn period for critical congenital heart disease, hearing impairment, birth defects, and congenital biochemical disorders (usually on bloodspots), this guideline is specifically about bloodspot screening. The ISNS has provided neonatal screening guidelines for many years and here presents the renewed 2025 General Guidelines for Neonatal Bloodspot Screening. They are intended to provide a framework for screening programs to develop specific policies around all aspects of the newborn screening system, offering the basic set of items for consideration. These guidelines provide trusted anchors to build, expand, or maintain robustly organized neonatal or newborn screening (NBS) programs and a checklist to evaluate and improve the essential elements of those programs. For starting or developing programs, it is a set of elements for which provisions need to be in place and a checklist of items that the screening program should at a minimum have provisions for. The publication of these guidelines is meant as a starting point for interactive discussion, to further improve this document and expand where necessary.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192812/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484325","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":"Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns.","authors":"Paul Dantonio, Tracy Klug, Golriz Yazdanpanah, Christopher Haynes, Hui Zhou, Patrick Hopkins, Robert Vogt, Rachel Lee, Carla Cuthbert, Konstantinos Petritis","doi":"10.3390/ijns11020044","DOIUrl":"10.3390/ijns11020044","url":null,"abstract":"<p><p>Newborn bloodspot screening for one or more lysosomal storage disorders (NBS-LSD) is currently performed by many public health NBS laboratories globally. The screening tests measure activities of selected lysosomal enzymes on dried blood spot (DBS) specimens collected from newborns by the heel stick method Because these assays measure enzyme activity, the quantitative results are dependent on the particular analytical method. DBS quality control (DBS QC) materials with assay-specific certified values that span the relevant range from typical to LSD-affected newborns are an important component of quality assurance in NBS laboratories. The Newborn Screening Quality Assurance Program (NSQAP) at the U.S. Centers for Disease Control and Prevention (CDC) provides public health NBS laboratories with DBS QC sets for NBS-LSD comprising four admixtures of pooled umbilical cord blood and a base pool made from leukodepleted peripheral blood and heat-inactivated serum. To evaluate the suitability of these materials for use with digital microfluidics fluorometry (DMF) assays which can currently measure the activity of four enzymes (acid α-galactosidase (GLA); acid β-glucocerebrosidase (GBA); acid α-glucosidase (GAA); and iduronidase (IDUA)), CDC collaborated with the Newborn Screening Unit at the Missouri State Public Health Laboratory (MSPHL). Using MSPHL criteria, we found that the certified results from each of two DBS QC lots collectively spanned the range from typical (screen negative) to enzyme deficient (screen positive) newborn DBS levels for each of the four lysosomal enzymes measured. The range included borderline results that would require repeat screening of the newborn under the MSPHL protocol. We conclude that these DBS QC preparations are suitable for use as external quality control materials for DMF assays used to detect LSDs in newborns.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12193102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484322","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":"Ten-Year Anniversary of the <i>International Journal of Neonatal Screening</i>: Revisiting Its Scope.","authors":"Ralph Fingerhut, Peter C J I Schielen","doi":"10.3390/ijns11020042","DOIUrl":"10.3390/ijns11020042","url":null,"abstract":"<p><p>The 10th anniversary of the <i>International Journal of Neonatal Screening</i> (<i>IJNS</i>) was celebrated on 25 March 2025, during the 13th Regional European Meeting of the International Society of Neonatal Screening (ISNS) in Luxembourg [...].</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12193519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484327","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 Cystic Fibrosis Newborn Screening and Follow-Up Process in Georgia (2022-2023).","authors":"Nino Vardosanidze, Nani Kavlashvili, Lali Margvelashvili, Oleg Kvlividze, Mikheil Diakonidze, Saba Iordanishvili, Dodo Agladze","doi":"10.3390/ijns11020043","DOIUrl":"10.3390/ijns11020043","url":null,"abstract":"<p><p>Cystic fibrosis (CF) is a chronic, autosomal-recessive disorder caused by mutations in the CFTR gene, leading to thickened secretions that affect multiple organ systems. This study examines the effectiveness of Georgia's national CF screening program, which was initiated in 2012 and includes the measurement of immunoreactive trypsinogen (IRT) levels at birth. An analysis of data from 2022 and 2023 revealed a decrease in follow-up attendance for sweat chloride testing among newborns with elevated IRT levels, from 59.9% to 51.2%. The birth prevalence of cystic fibrosis in Georgia varied, suggesting a need to improve both the accessibility of free testing and the quality of follow-up care. Identified barriers include limited access to screening results for pediatricians and the cost of follow-up tests. Recommendations include incorporating free sweat chloride and genetic testing into the national program, as well as improving community education and coordination with social agencies. The identification of 29 CFTR mutations in patients underscores the importance of continued genetic counseling. Overall, while the screening program shows promise, addressing these barriers is essential to improve outcomes and ensure the timely diagnosis and management of cystic fibrosis in Georgia.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12193385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484323","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":"Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape.","authors":"Marina Okamura, Emma Minchin, Carolyn Mazariego, Jolyn Hersch, Natalie Taylor, Ilona Juraskova","doi":"10.3390/ijns11020041","DOIUrl":"10.3390/ijns11020041","url":null,"abstract":"<p><p>Newborn Bloodspot Screening (NBS) has significantly advanced early disease detection, preventing severe disability and infant mortality. The anticipated integration of genomic technologies into NBS (gNBS) promises earlier diagnosis and targeted treatments. However, it also introduces complexities that necessitate enhanced consent processes. Dynamic Consent Platforms (DCPs), with their layered information and modifiable preferences, may fulfil this rapidly evolving need. This qualitative study explored NBS and genomic interest-holder perspectives on (i) challenges in obtaining informed consent within the current and genomic NBS contexts, and (ii) the acceptability, feasibility, and utility of DCPs for genomics. Sixteen key interest-holders involved in NBS/genomic consent (midwives, genetic counsellors, geneticists, researchers, pathologist, consumer advocate) completed a semi-structured interview. Thematic analysis identified four main themes: (i) looking towards genomic expansions, (ii) systemic issues, (iii) genomic consent information, and (iv) Dynamic Consent Platforms. Participants emphasised revising the timing of consent processes and standardising consent training for clinicians. A nationally standardised DCP was perceived as valuable for addressing consent challenges within gNBS; however, concerns were raised regarding accessibility of online resources for vulnerable populations and integrating DCPs into healthcare systems. Recommendations for future research and clinical implications in this evolving field are discussed.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12193422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484324","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":"It Takes All of Us: How the Cystic Fibrosis Foundation Is Supporting States in Advancing Cystic Fibrosis Newborn Screening.","authors":"Mary Dwight, Albert Faro","doi":"10.3390/ijns11020039","DOIUrl":"10.3390/ijns11020039","url":null,"abstract":"<p><p>The publication of <i>Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation</i> (CFF) presents the challenge of implementation. CFF is prepared to partner with stakeholders to enhance newborn screening (NBS) practices. Through funding provided to the Center for Public Health Innovation (CPHI), the CFF has helped establish two genetic testing resource centers to help states implement CFTR sequencing within the NBS algorithm. CPHI, with CFF funding, is facilitating quality improvement collaboratives that unite CF clinicians and NBS staff nationwide to share best practices in laboratory methods, communication, and education. CFF continues to fund the Screening Improvement Program Award for Optimizing the Diagnosis of Infants and has developed a toolkit to help CF care teams collaborate with NBS programs on guideline implementation. Together, these initiatives aim to support states and CF providers in adapting their algorithms and processes. By identifying current best practices to improve timeliness, sensitivity, and equity in CF NBS, CFF seeks to promote better outcomes for all individuals with CF. Recognizing the competing demands on state public health departments, CFF is committed to partnering with stakeholders to ensure meaningful improvements in CF NBS.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101368/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127414","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}