International Journal of Neonatal Screening最新文献_第5页

Ten-Year Anniversary of the International Journal of Neonatal Screening: Revisiting Its Scope. 国际新生儿筛查杂志十周年纪念：重新审视其范围。

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International Journal of Neonatal Screening Pub Date : 2025-06-04 DOI: 10.3390/ijns11020042

Ralph Fingerhut, Peter C J I Schielen

引用次数: 0

Evaluation of Cystic Fibrosis Newborn Screening and Follow-Up Process in Georgia (2022-2023). 乔治亚州囊性纤维化新生儿筛查和随访过程评估（2022-2023）

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International Journal of Neonatal Screening Pub Date : 2025-06-04 DOI: 10.3390/ijns11020043

Nino Vardosanidze, Nani Kavlashvili, Lali Margvelashvili, Oleg Kvlividze, Mikheil Diakonidze, Saba Iordanishvili, Dodo Agladze

{"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":"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.","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}

引用次数: 0

Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape. 新生儿基因组筛查的知情同意：在不断发展的景观中动态同意的利益持有人观点。

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International Journal of Neonatal Screening Pub Date : 2025-05-28 DOI: 10.3390/ijns11020041

Marina Okamura, Emma Minchin, Carolyn Mazariego, Jolyn Hersch, Natalie Taylor, Ilona Juraskova

{"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":"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.","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}

引用次数: 0

It Takes All of Us: How the Cystic Fibrosis Foundation Is Supporting States in Advancing Cystic Fibrosis Newborn Screening. 它需要我们所有人：囊性纤维化基金会如何支持各州推进囊性纤维化新生儿筛查。

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International Journal of Neonatal Screening Pub Date : 2025-05-20 DOI: 10.3390/ijns11020039

Mary Dwight, Albert Faro

{"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":"The publication of Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation (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.","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}

引用次数: 0

Participatory Workflow Analysis of Newborn Genetic Screening (NBS) to Support Tools for Improved Follow-Up: Comparing the Use Case of Hemoglobinopathy Traits Across U.S. States. 新生儿遗传筛查（NBS）的参与式工作流程分析，以支持改进随访的工具：比较美国各州血红蛋白病特征的用例

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International Journal of Neonatal Screening Pub Date : 2025-05-20 DOI: 10.3390/ijns11020040

Peter Taber, Jennifer Baysinger, Sierra Daniels, Natalie Diaz-Kincaid, Amy Gaviglio, Jacob Ginter, Patrice K Held, Emily Reeves, Virginia Sack, Jennifer Weaver, Karen Eilbeck

{"title":"Participatory Workflow Analysis of Newborn Genetic Screening (NBS) to Support Tools for Improved Follow-Up: Comparing the Use Case of Hemoglobinopathy Traits Across U.S. States.","authors":"Peter Taber, Jennifer Baysinger, Sierra Daniels, Natalie Diaz-Kincaid, Amy Gaviglio, Jacob Ginter, Patrice K Held, Emily Reeves, Virginia Sack, Jennifer Weaver, Karen Eilbeck","doi":"10.3390/ijns11020040","DOIUrl":"10.3390/ijns11020040","url":null,"abstract":"Communication of newborn screening (NBS) results often fails to provide clear explanations of NBS screen results to parents. Understanding existing NBS workflows is vital for improving NBS follow-up. We sought to describe a diverse range of state NBS programs as a starting point for designing tools to improve NBS follow-up, using the example of hemoglobinopathy traits. At a workshop of the 2023 Association of Public Health Laboratories NBS Symposium, participants filled out a survey and modeled their state workflows. Salient features were extracted and synthesized by state. A subset of models was member checked. Representatives from 19 U.S. states participated in the workflow analysis. Mail was overwhelmingly relied upon to convey the results. NBS programs differed by point of first contact with parents and degree of reliance on third parties. A participatory approach is useful for the rapid preliminary documentation of existing NBS program diversity and opportunities and challenges to improve patient education and follow-up. Future work should broaden the analysis to additional entities or individuals, particularly parents and caregivers.","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/PMC12101280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127596","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}

引用次数: 0

Newborn Screening for Congenital Heart Disease: A Five-Year Study in Shanghai. 新生儿先天性心脏病筛查：上海地区5年研究

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International Journal of Neonatal Screening Pub Date : 2025-05-17 DOI: 10.3390/ijns11020038

Youping Tian, Qing Gu, Xiaojing Hu, Xiaoling Ge, Xiaojing Ma, Miao Yang, Pin Jia, Jing Zhang, Lulu Yang, Quming Zhao, Fang Liu, Ming Ye, Yulin Yang, Guoying Huang

{"title":"Newborn Screening for Congenital Heart Disease: A Five-Year Study in Shanghai.","authors":"Youping Tian, Qing Gu, Xiaojing Hu, Xiaoling Ge, Xiaojing Ma, Miao Yang, Pin Jia, Jing Zhang, Lulu Yang, Quming Zhao, Fang Liu, Ming Ye, Yulin Yang, Guoying Huang","doi":"10.3390/ijns11020038","DOIUrl":"10.3390/ijns11020038","url":null,"abstract":"This study aimed to report the progress and results of the newborn screening program for congenital heart disease (CHD) in south Shanghai between 2019 and 2023, and to evaluate the accuracy of the dual-index method (pulse oximetry (POX) plus cardiac murmur auscultation) in clinical practice. Between 2019 and 2023, a total of 198,606 (99.89%) newborns were screened for CHD, of whom 3299 (1.66%) tested positive, 3043 (92.24%) underwent echocardiography for CHD diagnosis and 1109 were diagnosed with CHD in a timely manner. Among 195,307 infants with negative screening results using the dual-index method, 139 (0.07%) were later diagnosed with CHD, and none of these infants died. More than half of these false-negative infants (59.39%) were identified due to the detection of a heart murmur during routine physical examinations within six months after birth. Compared to POX testing alone, the dual-index method significantly improved the sensitivity of screening for CHD, and kept high specificity in clinical practice. This study demonstrated that newborn screening for CHD has been well conducted in Shanghai, and the dual-index method had high accuracy and reliability for neonatal CHD screening in clinical practice.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127576","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}

引用次数: 0

Screening Blind Spot: Missing Preterm Infants in the Detection of Congenital Hypothyroidism. 筛查盲点：先天性甲状腺功能减退症检测中缺失的早产儿。

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International Journal of Neonatal Screening Pub Date : 2025-05-13 DOI: 10.3390/ijns11020037

Ashleigh Brown, Paul Hofman, Dianne Webster, Natasha Heather

{"title":"Screening Blind Spot: Missing Preterm Infants in the Detection of Congenital Hypothyroidism.","authors":"Ashleigh Brown, Paul Hofman, Dianne Webster, Natasha Heather","doi":"10.3390/ijns11020037","DOIUrl":"10.3390/ijns11020037","url":null,"abstract":"Congenital hypothyroidism (CH) is a critical condition in infancy where early detection is vital for optimal development. This study aimed to evaluate the sensitivity of Aotearoa New Zealand's Newborn Metabolic Screening \"Low Birth Weight\" protocol for detecting CH in preterm infants. A 10-year audit was conducted on 2935 preterm infants (<2000 g or ≤34 weeks gestation) screened within NICUs or SCBUs in the Auckland region. The study assessed both screen-detected and clinically detected cases of CH. Data were collected from screening and clinical records to evaluate the sensitivity and reliability of the current protocol. The audit identified 19 cases of primary CH, with a 1:154 incidence. Thirteen cases met the criteria for inclusion in the audit. Just over half of the eligible cases (7/13) were screen-detected, while the remaining were detected clinically, suggesting limitations in screening sensitivity. The analysis revealed that the protocol missed permanent as well as transient cases, and that biochemical severity was not predictive of permanence. A revised screening protocol was developed and commenced in July 2024.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127600","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}

引用次数: 0

Characterization of C5 Acylcarnitines and Related Dicarboxylic Acylcarnitines in Saudi Newborns: Screening, Confirmation, and Cutoff Variation. 沙特新生儿C5酰基肉碱和相关二羧基酰基肉碱的特征：筛选、确认和切断变异。

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International Journal of Neonatal Screening Pub Date : 2025-05-12 DOI: 10.3390/ijns11020036

Hanadi A Bokhari, Ahmed H Mujamammi, Huda A Bader, Hannadi J Alamri, Khalid K Alharbi

{"title":"Characterization of C5 Acylcarnitines and Related Dicarboxylic Acylcarnitines in Saudi Newborns: Screening, Confirmation, and Cutoff Variation.","authors":"Hanadi A Bokhari, Ahmed H Mujamammi, Huda A Bader, Hannadi J Alamri, Khalid K Alharbi","doi":"10.3390/ijns11020036","DOIUrl":"10.3390/ijns11020036","url":null,"abstract":"Newborn screening (NBS) is a nationwide program for the early detection of disability in the Saudi population. This study focused on specific disorders related to organic acids that share C5 acylcarnitines derivatives and related dicarboxylic acylcarnitines as primary screening metabolites. We aimed to determine the frequency of C5 acylcarnitine derivatives and related dicarboxylic acylcarnitines among screened newborns; confirm truly positive screening results using urine organic acid analysis; and compare the cutoff values for C5, C5DC, and C5OH acylcarnitines from the selected analytical centers. Data from laboratory positively screened and confirmed samples from the Public Health Authority (PHA) over 3 years were retrieved and analyzed to determine the frequency of the selected metabolites and percentage of true positive results among the positively screened samples. We identified significant correlations among variables such as disease, sex, and C5 metabolites across different cities. We clarified the frequency of true positive results for C5 acylcarnitine derivatives and related dicarboxylic acylcarnitines among Saudi newborns and highlighted significant variations in cutoff values across analytical centers. These findings contribute to the enhancement of NBS protocols and early intervention strategies.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101313/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127464","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}

引用次数: 0

Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone. 荷兰新生儿酪氨酸血症1型筛查的性能评估：除琥珀酰丙酮外使用其他生物标志物的改进建议

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International Journal of Neonatal Screening Pub Date : 2025-05-09 DOI: 10.3390/ijns11020035

Marelle J Bouva, Allysa M Kuypers, Evelien A Kemper, Rose E Maase, Annet M Bosch, Francjan J van Spronsen, Annemieke C Heijboer, M Rebecca Heiner-Fokkema, Sandra G Heil, Anita Boelen

{"title":"Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone.","authors":"Marelle J Bouva, Allysa M Kuypers, Evelien A Kemper, Rose E Maase, Annet M Bosch, Francjan J van Spronsen, Annemieke C Heijboer, M Rebecca Heiner-Fokkema, Sandra G Heil, Anita Boelen","doi":"10.3390/ijns11020035","DOIUrl":"10.3390/ijns11020035","url":null,"abstract":"Currently, Dutch newborns are screened for tyrosinemia type 1 (TT1) using succinylacetone (SA) as the biomarker. Although the sensitivity of the test is high, a high number of false positives is observed. Here, the aim is to evaluate the current Dutch newborn-screening protocol and to assess alternatives, specifically the use of biomarkers that are already being measured, to increase the positive predictive value (PPV). TT1 screening was performed with the Revvity NeoBase assay between 2008 and 2017, and since 2018, the Revvity NeoBase 2 assay has been used. Data from 2018 to 2021 were used for evaluation. To simulate alternative screening protocols, these data were enriched with results of referrals from other periods and a false negative (FN) from 2010. In 2018-2021, 693,821 newborns were screened, resulting in 23 referrals, of whom two were TT1 patients. For this period, to date, no FN have been reported, resulting in a provisional sensitivity of 100%, a specificity of 99.997%, and a PPV and negative predictive value of 9% and 100%, respectively. To improve the PPV, we combined SA, tyrosine (tyr), tyr × SA and tyr/phenylalanine and achieved a PPV of 72% for this dataset without introducing FN in the original dataset. This illustrates that future screening for TT1 may benefit from the addition of these biomarkers.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127472","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}

引用次数: 0

Newborn Screening for Gaucher Disease: The New Jersey Experience. 新生儿戈谢病筛查：新泽西州的经验。

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International Journal of Neonatal Screening Pub Date : 2025-05-02 DOI: 10.3390/ijns11020034

Caitlin Menello, Shaney Pressley, Madeline Steffensen, Sarah Schmidt, Helio Pedro, Reena Jethva, Karen Valdez-Gonzalez, Darius J Adams, Punita Gupta, Lorien Tambini King, Milen Velinov, Sharon Anderson, Peyman Bizargity, Beth Pletcher, Allysa Tuite, Christina Kresge, Debra Lynn Day-Salvatore, Ryan Kuehl, Can Ficicioglu

{"title":"Newborn Screening for Gaucher Disease: The New Jersey Experience.","authors":"Caitlin Menello, Shaney Pressley, Madeline Steffensen, Sarah Schmidt, Helio Pedro, Reena Jethva, Karen Valdez-Gonzalez, Darius J Adams, Punita Gupta, Lorien Tambini King, Milen Velinov, Sharon Anderson, Peyman Bizargity, Beth Pletcher, Allysa Tuite, Christina Kresge, Debra Lynn Day-Salvatore, Ryan Kuehl, Can Ficicioglu","doi":"10.3390/ijns11020034","DOIUrl":"10.3390/ijns11020034","url":null,"abstract":"Gaucher disease (GD) is a lysosomal storage disorder (LSD) characterized by glycosphingolipid accumulation. Age of symptomonset and disease progression varies across types of disease. Newborn screening (NBS) for Gaucher disease facilitates early identification of affected individuals and enables pre-symptomatic monitoring with the goal of starting therapies early and improving clinical outcomes. This multi-center study involved New Jersey NBS referral centers. Data regarding initial NBS results, confirmatory testing, diagnosis, and treatment were collected. For patients on therapy, monitoring biomarkers and exam findings are available as of the last clinical evaluation. Between July 2019 and December 2023, 438,515 newborns were screened, with 60 screen-positive cases. Of those positive screens, 19 cases with positive screens did not undergo confirmatory testing due to parental refusal, loss to follow-up, or death; 23 cases were false positives; 14 newborns were diagnosed with GD type I; 2 newborns were diagnosed with suspected type I GD; 2 newborns were diagnosed with GD type II; and 1 case is still pending. Three type I GD patients started enzyme replacement therapy, with the youngest starting at 28 months of age. Post-treatment data are available for these individuals. One type II case was referred to experimental gene therapy, and one was started on ERT. Our results demonstrate that NBS for GD is a valuable public health tool that can facilitate early diagnosis and intervention.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12101256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127581","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}

引用次数: 0