International Journal of Neonatal Screening最新文献_第6页

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center. 通过新生儿筛查发现的马来酰乙酰乙酸异构酶缺乏症新病例及 32 年来的自然病史：德国新生儿筛查中心的经验。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-02-27 DOI: 10.3390/ijns10010017

Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G Okun, Holger Prokisch, Thomas Meitinger, Georg F Hoffmann

{"title":"New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.","authors":"Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G Okun, Holger Prokisch, Thomas Meitinger, Georg F Hoffmann","doi":"10.3390/ijns10010017","DOIUrl":"10.3390/ijns10010017","url":null,"abstract":"Newborn screening (NBS) for hepatorenal tyrosinemia type I (HT1) based on a determination of succinylacetone is performed in countries worldwide. Recently, biallelic pathogenic variants in GSTZ1 underlying maleylacetoacetate isomerase (MAAI) deficiency have been described as a differential diagnosis in individuals with slightly elevated succinylacetone detected by NBS. We report the experience with NBS for HT1 over 53 months in a large German NBS center and the identification and characterization of additional cases with MAAI deficiency, including one individual with a natural history over 32 years. A total of 516,803 children underwent NBS for HT1 at the NBS center in Heidelberg between August 2016 and December 2020. Of 42 children with elevated succinylacetone, HT1 was confirmed in two cases (1 in 258.401). MAAI deficiency was suspected in two cases and genetically confirmed in one who showed traces of succinylacetone in urine. A previously unreported pathogenic GSTZ1 variant was found in the index in a biallelic state. Segregation analysis revealed monoallelic carriership in the index case's mother and homozygosity in his father. The 32-year-old father had no medical concerns up to that point and the laboratory work-up was unremarkable. MAAI has to be considered a rare differential diagnosis in NBS for HT1 in cases with slight elevations of succinylacetone to allow for correct counselling and treatment decisions. Our observation of natural history over 32 years adds evidence for a benign clinical course of MAAI deficiency without specific treatment.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10970868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140293422","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

History of Neonatal Screening of Congenital Hypothyroidism in Portugal. 葡萄牙新生儿先天性甲状腺功能减退症筛查的历史。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-02-20 DOI: 10.3390/ijns10010016

Maria José Costeira, Patrício Costa, Susana Roque, Ivone Carvalho, Laura Vilarinho, Joana Almeida Palha

{"title":"History of Neonatal Screening of Congenital Hypothyroidism in Portugal.","authors":"Maria José Costeira, Patrício Costa, Susana Roque, Ivone Carvalho, Laura Vilarinho, Joana Almeida Palha","doi":"10.3390/ijns10010016","DOIUrl":"10.3390/ijns10010016","url":null,"abstract":"Congenital hypothyroidism (CH) leads to growth and development delays and is preventable with early treatment. Neonatal screening for CH was initiated in Portugal in 1981. This study examines the history of CH screening in the country. Data were obtained from annual reports and from the national database of neonatal screening laboratory. The CH screening strategy primarily relies on the thyroid-stimulating hormone (TSH), followed by total thyroxine measurement as the second tier for confirmation. The TSH cutoff started at 90 mIU/L, decreasing to the actual 10 mIU/L. The coverage of the screening program has increased rapidly; although voluntary, it reached about 90% in 6 years and became universal in 10 years. Guideline and cutoff updates led to the identification of over 200 additional cases, resulting in specific retesting protocols for preterm and very-low-birth-weight babies. The actual decision tree considers CH when TSH levels are above 40 mIU/L. Data from the CH screening also provide an indication of the iodine status of the population, which is presently indicative of iodine insufficiency. The Portuguese neonatal screening for CH is a history of success. It has rapidly and continuously adapted to changes in knowledge and has become a universal voluntary practice within a few years.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10885029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139931097","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

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan. 日本在新生儿筛查中使用 C14:1/Medium-Chain Acylcarnitine 比率而非 C14:1 来减少极长链乙酰辅酶脱氢酶缺乏症的假阳性结果。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-02-20 DOI: 10.3390/ijns10010015

Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada

{"title":"Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.","authors":"Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada","doi":"10.3390/ijns10010015","DOIUrl":"10.3390/ijns10010015","url":null,"abstract":"Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a long-chain fatty acid oxidation disorder that manifests as either a severe phenotype associated with cardiomyopathy, a hypoglycemic phenotype, or a myopathic phenotype. As the hypoglycemic phenotype can cause sudden infant death, VLCAD deficiency is included in newborn screening (NBS) panels in many countries. The tetradecenoylcarnitine (C14:1) level in dried blood specimens is commonly used as a primary marker for VLCAD deficiency in NBS panels. Its ratio to acetylcarnitine (C2) and various other acylcarnitines is used as secondary markers. In Japan, tandem mass spectrometry-based NBS, initially launched as a pilot study in 1997, was introduced to the nationwide NBS program in 2013. In the present study, we evaluated levels of acylcarnitine with various chain lengths (C18 to C2), free carnitine, and their ratios in 175 infants who tested positive for VLCAD deficiency with C14:1 and C14:1/C2 ratios. Our analyses indicated that the ratios of C14:1 to medium-chain acylcarnitines (C10, C8, and C6) were the most effective markers in reducing false-positive rates. Their use with appropriate cutoffs is expected to improve NBS performance for VLCAD deficiency.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10885094/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139931100","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

Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study. 新生儿普遍筛查背景下先天性耳聋的主要风险因素：我们在四年回顾性研究中的观察。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-01-30 DOI: 10.3390/ijns10010011

Antoine Paul, Fanny Bense, Claire Boithias Guerot, Sofia De La Rubia, Cécile Lebeaux, Jean-François Papon

{"title":"Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.","authors":"Antoine Paul, Fanny Bense, Claire Boithias Guerot, Sofia De La Rubia, Cécile Lebeaux, Jean-François Papon","doi":"10.3390/ijns10010011","DOIUrl":"10.3390/ijns10010011","url":null,"abstract":"It has been demonstrated that universal hearing neonatal screening (UHNS) is efficient at providing early diagnosis and rehabilitation for deafness. The risk factors of deafness in children have been identified, but less specifically in those diagnosed after UHNS. In this study, we aim to study these factors in infants who were referred after screening and to compare our experience to recent data. We studied infants referred to our department for diagnosis after screening between January 2018 and December 2021. Their medical history and neonatal hearing risk factors were assessed. Associations between factors were also analyzed. Sixty-six infants were included. A family history of deafness (47%), syndromic deafness (41%), intrauterine growth retardation or prematurity (19.7%), and prolonged NICU admission (18%) were the most observed factors. When analyzing according to these associations, family history of deafness and syndromic cases remained the most prevalent factors (74%), while only five cases (7.8%) presented with other neonatal risk factors only. The majority of congenital hearing loss cases are observed in infants with suspected genetic deafness. Parental counseling, the diagnostic pathway, as well as the healthcare system should be adapted according to these risk factors.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10885021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139931098","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 Krabbe Disease: Status Quo and Recommendations for Improvements. 新生儿克拉伯病筛查：现状和改进建议。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-01-28 DOI: 10.3390/ijns10010010

Dietrich Matern, Khaja Basheeruddin, Tracy L Klug, Gwendolyn McKee, Patricia U Edge, Patricia L Hall, Joanne Kurtzberg, Joseph J Orsini

{"title":"Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.","authors":"Dietrich Matern, Khaja Basheeruddin, Tracy L Klug, Gwendolyn McKee, Patricia U Edge, Patricia L Hall, Joanne Kurtzberg, Joseph J Orsini","doi":"10.3390/ijns10010010","DOIUrl":"10.3390/ijns10010010","url":null,"abstract":"Krabbe disease (KD) is part of newborn screening (NBS) in 11 states with at least one additional state preparing to screen. In July 2021, KD was re-nominated for addition to the federal Recommended Uniform Screening Panel (RUSP) in the USA with a two-tiered strategy based on psychosine (PSY) as the determinant if an NBS result is positive or negative after a first-tier test revealed decreased galactocerebrosidase activity. Nine states currently screening for KD include PSY analysis in their screening strategy. However, the nomination was rejected in February 2023 because of perceived concerns about a high false positive rate, potential harm to newborns with an uncertain prognosis, and inadequate data on presymptomatic treatment benefit or harm. To address the concern about false positive NBS results, a survey was conducted of the eight NBS programs that use PSY and have been screening for KD for at least 1 year. Seven of eight states responded. We found that: (1) the use of PSY is variable; (2) when modeling the data based on the recommended screening strategy for KD, and applying different cutoffs for PSY, each state could virtually eliminate false positive results without major impact on sensitivity; (3) the reason for the diverse strategies appears to be primarily the difficulty of state programs to adjust screening algorithms due to the concern of possibly missing even an adult-onset case following a change that focuses on infantile and early infantile KD. Contracts with outside vendors and the effort/cost of making changes to a program's information systems can be additional obstacles. We recommend that programs review their historical NBS outcomes for KD with their advisory committees and make transparent decisions on whether to accept false positive results for such a devastating condition or to adjust their procedures to ensure an efficient, effective, and manageable NBS program for KD.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10885092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139931099","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

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation. 澳大利亚公众对新生儿基因组筛查的看法：风险、益处和实施偏好。

IF 4

International Journal of Neonatal Screening Pub Date : 2024-01-17 DOI: 10.3390/ijns10010006

Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears

{"title":"Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.","authors":"Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears","doi":"10.3390/ijns10010006","DOIUrl":"10.3390/ijns10010006","url":null,"abstract":"Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public's perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23-72 participated in 1 of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that the adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public's views and preferences to inform the delivery of a gNBS program in the Australian context.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10801595/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512455","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

A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection. 一例在新生儿筛查中发现的 DNAJC12 缺失型高苯丙氨酸血症：早期检测的临床结果。

IF 4

International Journal of Neonatal Screening Pub Date : 2024-01-17 DOI: 10.3390/ijns10010007

Colleen Donnelly, Lissette Estrella, Ilona Ginevic, Jaya Ganesh

引用次数: 0

Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis. 基于胰腺炎相关蛋白的新生儿囊性纤维化筛查算法中季节、储存温度和样本采集时间的影响

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-01-12 DOI: 10.3390/ijns10010005

Pia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, Lina Soueidan, Susanne Hämmerling, Dirk Kohlmüller, Patrik Feyh, Gwendolyn Gramer, Sven F Garbade, Georg F Hoffmann, Jürgen G Okun, Olaf Sommerburg

{"title":"Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.","authors":"Pia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, Lina Soueidan, Susanne Hämmerling, Dirk Kohlmüller, Patrik Feyh, Gwendolyn Gramer, Sven F Garbade, Georg F Hoffmann, Jürgen G Okun, Olaf Sommerburg","doi":"10.3390/ijns10010005","DOIUrl":"10.3390/ijns10010005","url":null,"abstract":"Newborn screening (NBS) for cystic fibrosis (CF) based on pancreatitis-associated protein (PAP) has been performed for several years. While some influencing factors are known, there is currently a lack of information on the influence of seasonal temperature on PAP determination or on the course of PAP blood concentration in infants during the first year of life. Using data from two PAP studies at the Heidelberg NBS centre and storage experiments, we compared PAP determinations in summer and winter and determined the direct influence of temperature. In addition, PAP concentrations measured in CF-NBS, between days 21-35 and 36-365, were compared. Over a 7-year period, we found no significant differences between PAP concentrations determined in summer or winter. We also found no differences in PAP determination after 8 days of storage at 4 °C, room temperature or 37 °C. When stored for up to 3 months, PAP samples remained stable at 4 °C, but not at room temperature (p = 0.007). After birth, PAP in neonatal blood showed a significant increasing trend up to the 96th hour of life (p < 0.0001). During the first year of life, blood PAP concentrations continued to increase in both CF- (36-72 h vs. 36-365 d p < 0.0001) and non-CF infants (36-72 h vs. 36-365 d p < 0.0001). Seasonal effects in central Europe appear to have a limited impact on PAP determination. The impact of the increase in blood PAP during the critical period for CF-NBS and beyond on the applicability and performance of PAP-based CF-NBS algorithms needs to be re-discussed.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10801509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512457","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

Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities 新生儿筛查条件中神经发育合并症的前景分析：挑战与机遇

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-01-04 DOI: 10.3390/ijns10010004

Zohreh Talebizadeh, Valerie Hu, Monir Shababi, A. Brower

{"title":"Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities","authors":"Zohreh Talebizadeh, Valerie Hu, Monir Shababi, A. Brower","doi":"10.3390/ijns10010004","DOIUrl":"https://doi.org/10.3390/ijns10010004","url":null,"abstract":"Newborn screening (NBS) is a large-scale public health program in the US that screens 3.8 million newborns for up to 81 genetic conditions each year. Many of these conditions have comorbidities, including neurodevelopmental disorders (NDDs). These comorbidities can have a significant impact on health outcomes across the lifespan. Most screened conditions are inborn errors of metabolism. PKU, the first condition identified by NBS, is an inherited metabolic disorder that can cause developmental delays and IDD if not treated. The Newborn Screening Translational Research Network (NBSTRN) is a program that has been funded by the National Institute of Child Health and Human Development since 2008. NBSTRN is charged with developing, maintaining, and enhancing tools, resources, and expertise supporting NBS research. One of the tasks led by NBSTRN is to provide direction for developing question/answer sets used in the Longitudinal Pediatric Data Resource (LPDR) to create consensus-based and standardized common data elements (CDEs) for NBS conditions. There is growing interest in the NBS community in assessing neurodevelopmental trajectories through long-term follow-up studies. This could be streamlined by employing uniform CDEs. To address this unmet need, we conducted a landscape analysis to (1) explore the co-occurrence of NDD-related comorbidities and NBS conditions using text mining in MedGen, (2) compile a list of NDD-related CDEs from existing repositories as well as LPDR data dictionaries, and (3) identify challenges and knowledge gaps hindering the early identification of risks for NDDs in NBS conditions. Our findings can inform future efforts toward advancing the research infrastructure for this established public health program. The renewed awareness of the risk of NDDs after a positive NBS and diagnosis could lead to improved treatment guidelines for mental health conditions.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"69 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2024-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139387302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy. 新生儿溶酶体贮积症筛查中的光明与阴影：意大利东北部八年的经验。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-12-25 DOI: 10.3390/ijns10010003

Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P Burlina, Alberto B Burlina

{"title":"Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.","authors":"Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P Burlina, Alberto B Burlina","doi":"10.3390/ijns10010003","DOIUrl":"10.3390/ijns10010003","url":null,"abstract":"In the last two decades, the development of high-throughput diagnostic methods and the availability of effective treatments have increased the interest in newborn screening for lysosomal storage disorders. However, long-term follow-up experience is needed to clearly identify risks, benefits and challenges. We report our 8-year experience of screening and follow-up on about 250,000 neonates screened for four lysosomal storage diseases (Pompe disease, mucopolysaccharidosis type I, Fabry disease, Gaucher disease), using the enzyme activity assay by tandem mass spectrometry, and biomarker quantification as a second-tier test. Among the 126 positive newborns (0.051%), 51 infants were confirmed as affected (positive predictive value 40%), with an overall incidence of 1:4874. Of these, three patients with infantile-onset Pompe disease, two with neonatal-onset Gaucher disease and four with mucopolysaccharidosis type I were immediately treated. Furthermore, another four Gaucher disease patients needed treatment in the first years of life. Our study demonstrates the feasibility and effectiveness of newborn screening for lysosomal storage diseases. Early diagnosis and treatment allow the achievement of better patient outcomes. Challenges such as false-positive rates, the diagnosis of variants of uncertain significance or late-onset forms and the lack of treatment for neuronopathic forms, should be addressed.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"10 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10801488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512450","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