International Journal of Neonatal Screening最新文献_第4页

Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025. 基因组学和新生儿筛查的伦理和临床界限：IPIC2025的简要报告。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2026-06-18 DOI: 10.3390/ijns12020043

Raquel Yahyaoui, Lúcia Mamede, Martin Zach, James Taylor, Claire Booth, Rosalind Fisher, Věra Franková, Adli Ali, Johan Prevot, Martine Pergent, Roberta Anido de Pena, Elizabeth Rivers

{"title":"Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025.","authors":"Raquel Yahyaoui, Lúcia Mamede, Martin Zach, James Taylor, Claire Booth, Rosalind Fisher, Věra Franková, Adli Ali, Johan Prevot, Martine Pergent, Roberta Anido de Pena, Elizabeth Rivers","doi":"10.3390/ijns12020043","DOIUrl":"10.3390/ijns12020043","url":null,"abstract":"The Ethics Session of the International Primary Immunodeficiency Congress (IPIC), held in November 2025 and organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), examined one of the most challenging developments emerging from genomic-enhanced newborn screening: the identification of serious, non-treatable disorders as incidental detection in programmes originally designed to detect severe combined immunodeficiency (SCID). Using a fictionalised clinical scenario based on the recent literature, the session explored the early diagnosis of ataxia-telangiectasia (AT) detected through TREC-based screening. The discussion highlighted the clinical value and psychological risks associated with presymptomatic detection, the persistent shortcomings in parental consent processes, the systemic pressures created by expanding genomic testing, and the ethical challenges surrounding the reporting and management of incidental findings in screening. The debate underscored the need for internationally coordinated frameworks to guide the management of incidental detection in newborn screening as genomic technologies become more deeply embedded in routine public health practice.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13299271/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148317156","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

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry. 新生儿筛查发现远端尿素循环障碍患者的健康结局：来自西班牙国家登记处的数据

IF 3.5

International Journal of Neonatal Screening Pub Date : 2026-06-18 DOI: 10.3390/ijns12020044

Raquel Yahyaoui, Pilar Quijada-Fraile, Javier Blasco-Alonso, Inmaculada Vives, David Gil Ortega, Maria-Luz Couce, Paula Sánchez-Pintos, M Concepción García Jiménez, Silvia Meavilla Olivas, Camila García Volpe, Mariela de Los Santos Mercedes, Ángels García-Cazorla, Ana Felipe-Rucián, Lucy Dougherty-de Miguel, Ana Morais López, Ana Bergua Martínez, José David Andrade Guerrero, Sinziana Stanescu, Amaya Belanger, Mercedes Gil-Campos, María José Comino Monroy, Marcello Bellusci, Patricia Pérez-Mohand, Delia Barrio-Carreras, Belén Pérez, Elena Martín-Hernández

{"title":"Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.","authors":"Raquel Yahyaoui, Pilar Quijada-Fraile, Javier Blasco-Alonso, Inmaculada Vives, David Gil Ortega, Maria-Luz Couce, Paula Sánchez-Pintos, M Concepción García Jiménez, Silvia Meavilla Olivas, Camila García Volpe, Mariela de Los Santos Mercedes, Ángels García-Cazorla, Ana Felipe-Rucián, Lucy Dougherty-de Miguel, Ana Morais López, Ana Bergua Martínez, José David Andrade Guerrero, Sinziana Stanescu, Amaya Belanger, Mercedes Gil-Campos, María José Comino Monroy, Marcello Bellusci, Patricia Pérez-Mohand, Delia Barrio-Carreras, Belén Pérez, Elena Martín-Hernández","doi":"10.3390/ijns12020044","DOIUrl":"10.3390/ijns12020044","url":null,"abstract":"Urea cycle disorders (UCDs) are rare inherited metabolic diseases associated with toxic hyperammonemia, leading to severe neurological damage and early mortality. Early diagnosis of distal UCDs through newborn screening (NBS) enables presymptomatic intervention; however, comparative real-world outcome data remain limited. We conducted a retrospective, multicenter study using data from the Spanish UCD Registry to describe the clinical characteristics and compare health outcomes between patients diagnosed through NBS (n = 40) and those diagnosed after clinical presentation (n = 53). Patients identified by NBS showed a markedly more favorable clinical prognosis, with a mortality rate of 2.5% compared with 15.1% in the unscreened cohort, as well as significantly lower rates of neurological involvement, fewer hospital admissions due to metabolic decompensation, and a reduced need for liver transplantation. Screening also identified a high prevalence of argininosuccinate synthetase deficiency (ASS1D) cases with attenuated biochemical profiles, highlighting the relevance of sensitive screening cutoffs. These findings provide real-world evidence that presymptomatic diagnosis through NBS is associated with improved survival and long-term neurological outcomes in patients with distal UCDs.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13300526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148317082","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

Implementation of a Prospective Birth Cohort for Newborn Screening and Early Linkage to Comprehensive Sickle Cell Disease Care in a Low-Resource Setting. 在低资源环境下实施新生儿筛查和镰状细胞病综合护理早期联系的前瞻性出生队列。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2026-06-16 DOI: 10.3390/ijns12020042

Umma A Ibrahim, Aisha B Musa, Oiza O Aliu-Isah, Hauwa A Inuwa, Zubaida L Farouk, Khadija Bulama, Aisha Mukaddas, Khadija Kamal, Rifkatu N Auta, Nafiu Hussaini, Aisha A Galadanci, Yusuf D Jobbi, Bilya S Musa, Yvonne Carroll, Lauren J Klein, Ibrahim M Idris, Michael R DeBaun, Muktar H Aliyu

{"title":"Implementation of a Prospective Birth Cohort for Newborn Screening and Early Linkage to Comprehensive Sickle Cell Disease Care in a Low-Resource Setting.","authors":"Umma A Ibrahim, Aisha B Musa, Oiza O Aliu-Isah, Hauwa A Inuwa, Zubaida L Farouk, Khadija Bulama, Aisha Mukaddas, Khadija Kamal, Rifkatu N Auta, Nafiu Hussaini, Aisha A Galadanci, Yusuf D Jobbi, Bilya S Musa, Yvonne Carroll, Lauren J Klein, Ibrahim M Idris, Michael R DeBaun, Muktar H Aliyu","doi":"10.3390/ijns12020042","DOIUrl":"10.3390/ijns12020042","url":null,"abstract":"In sub-Saharan Africa, where approximately 75% of newborns with sickle cell disease (SCD) are born, under-five mortality remains high, partly due to the absence of newborn screening (NBS) and delayed linkage to comprehensive care. We conducted a prospective, quasi-experimental study involving two sequential newborn screening cohorts at Aminu Kano Teaching Hospital (AKTH), Kano, Nigeria (December 2022-December 2025), to evaluate the feasibility of integrating newborn screening (NBS) with early comprehensive SCD care and to identify barriers to enrollment before 3 months of age. Following an initial implementation period with suboptimal follow-up, a structured family-centered enrollment and communication strategy was introduced to improve early linkage to comprehensive care. During the pre-intervention period, 277 newborns were enrolled (33 with SCD and 244 without SCD [NSCD]), with early enrollment (≤3 months) occurring in 46.5% overall, higher among SCD than NSCD infants (72.8% vs. 43.0%). Delayed enrollment (>6 months) was more frequent among SCD infants. Following the implementation of family-centered communication strategies, 60 additional newborns were enrolled (16 SCD, 44 NSCD), and early enrollment increased to 91.7%. These findings demonstrate that low-cost, family-centered communication and tracking strategies can substantially improve early linkage to comprehensive SCD care following newborn screening in low-resource settings. Early enrollment is a critical step toward reducing morbidity and mortality among children with SCD in low-resource settings.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13300708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148317148","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

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. 利用重组酶筛查新生儿溶酶体疾病的干血斑熟练度测试材料的研制。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2026-06-09 DOI: 10.3390/ijns12020040

Elya Courtney, Samantha L Isenberg, Timothy Lim, C Austin Pickens, Rachel Lee, Carla Cuthbert, Konstantinos Petritis

{"title":"Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes.","authors":"Elya Courtney, Samantha L Isenberg, Timothy Lim, C Austin Pickens, Rachel Lee, Carla Cuthbert, Konstantinos Petritis","doi":"10.3390/ijns12020040","DOIUrl":"10.3390/ijns12020040","url":null,"abstract":"Lysosomal diseases (LDs, or Lysosomal Storage Disorders) have become increasingly visible in the newborn screening community, with the addition of mucopolysaccharidosis type II (MPS-II) into the Recommended Uniform Screening Panel in August 2022 and Infantile Krabbe disease in June 2024. As more LDs are expected to be considered for screening adoption, the ability to multiplex conditions and expand proficiency testing (PT) using quality control materials is essential. This study examines the use of recombinant enzymes to produce first-tier PT materials for mucopolysaccharidosis type I, MPS-II, Gaucher, Fabry, Krabbe, Pompe, and Niemann-Pick A/B (acid sphingomyelinase deficiency)-adding four disorders to the CDC's Newborn Screening Quality Assurance Program (NSQAP) LD PT panel. Through an iterative process that included two prototype phases, two pilot phases, and external testing by up to 31 external laboratories, a new manufacturing process was developed for producing high-performing dried blood spot-based LD PT specimens. Materials were evaluated using several methods commonly employed by newborn screening laboratories, including tandem mass spectrometry with flow injection and liquid chromatography, digital microfluidics, and fluorometric assays. This novel process for producing LD PT materials offers several advantages over previous manufacturing methods that relied on immortalized cell lines from affected patients. Improved scalability, for example, has enabled NSQAP to expand LD PT enrollment internationally. Furthermore, the new process makes it easier to support future expansions of the LD screening panel. The updated specimens and expanded program were launched in January 2025.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13299422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148317065","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

Transitioning from Laboratory-Developed Tests to a Single Commercial Reagent Kit in a National Newborn Screening Program: Impact on Analytical Performance and Harmonization. 从实验室开发的测试过渡到单一商业试剂盒在国家新生儿筛查计划：对分析性能和协调的影响。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2026-06-09 DOI: 10.3390/ijns12020041

Rachel S Carling, Zoe J Barclay, Sophie C Ward, Marie Appleton, Robert Barski, Harry Benn, Kelly Chambers, Paul Coakley, Helena Kemp, Nicola Crabbe, Sarah Dowden, Toby Greenfield, Sarah L Hogg, Saima Hussein, Rhiannon Marr, Oliver Parkes, Darren Powell, Tejswurree Ramgoolam, Joshua Ssali, Nazia Taj, Katherine Wright, Teresa H Y Wu, James R Bonham

{"title":"Transitioning from Laboratory-Developed Tests to a Single Commercial Reagent Kit in a National Newborn Screening Program: Impact on Analytical Performance and Harmonization.","authors":"Rachel S Carling, Zoe J Barclay, Sophie C Ward, Marie Appleton, Robert Barski, Harry Benn, Kelly Chambers, Paul Coakley, Helena Kemp, Nicola Crabbe, Sarah Dowden, Toby Greenfield, Sarah L Hogg, Saima Hussein, Rhiannon Marr, Oliver Parkes, Darren Powell, Tejswurree Ramgoolam, Joshua Ssali, Nazia Taj, Katherine Wright, Teresa H Y Wu, James R Bonham","doi":"10.3390/ijns12020041","DOIUrl":"10.3390/ijns12020041","url":null,"abstract":"Newborn screening in England is a national program with laboratories adhering to common screening algorithms. Until recently, screening for inherited metabolic disorders was provided by ten laboratories using laboratory-developed tests (LDTs) and three using commercial assays: harmonization of results proved challenging. Introduction of hereditary tyrosinemia type 1 screening meant LDTs required modification to include the measurement of succinylacetone, and subsequent re-validation. This provided an opportunity to implement a single commercial reagent kit in all laboratories. It was anticipated that this would improve analytical performance and harmonization. This study aimed to determine whether these goals were achieved. Verification across the 13 laboratories revealed that the commercial kit reduced inter-laboratory variation for all analytes demonstrating improved harmonization. However, this was achieved by applying instrument-specific correction factors to all analytes, the magnitude of which were significant, indicating a lack of standardization. Performance of succinylacetone was limited by instrument-dependent background interference from the methionine stable isotope label, underscoring the need to establish evidence-based screening cut-off values (COV) rather than adopting published thresholds. This study emphasizes the need for traceable reference materials to improve laboratory quality and the value of screening outcome data.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13300528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148317128","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 Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan. 日本兵库县新生儿晚发型近端尿素循环障碍筛查的四年前瞻性试点研究。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2026-06-04 DOI: 10.3390/ijns12020039

Tomoko Lee, Miki Matsui, Yoko Yokoyama, Ryosuke Bo, Hiroyuki Awano, Dai Kataoka, Masaaki Ueda, Toshinori Minato, Hironori Kobayashi, Yuki Hasegawa, Kei Murayama, Yasuhiro Takeshima

{"title":"A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.","authors":"Tomoko Lee, Miki Matsui, Yoko Yokoyama, Ryosuke Bo, Hiroyuki Awano, Dai Kataoka, Masaaki Ueda, Toshinori Minato, Hironori Kobayashi, Yuki Hasegawa, Kei Murayama, Yasuhiro Takeshima","doi":"10.3390/ijns12020039","DOIUrl":"10.3390/ijns12020039","url":null,"abstract":"Proximal urea-cycle disorders (PUCDs), including N-acetylglutamate synthase deficiency (NAGSD), ornithine transcarbamylase deficiency (OTCD), and carbamoyl phosphate synthase 1 deficiency (CPS1D), cause hyperammonemia and impair neurological outcomes. Early detection of late-onset forms allows presymptomatic intervention to prevent hyperammonemia; however, reliable newborn screening (NBS) markers are lacking. This prospective pilot study in Hyogo Prefecture, Japan, evaluated hypocitrullinemia as a screening marker for late-onset PUCDs. Newborns with citrulline levels below the 0.05th percentile on NBS between June 2020 and May 2024 were enrolled in the study. Confirmatory diagnosis of PUCDs was performed using plasma amino acids, urinary organic acids, and genetic testing. During the first period (101,172 newborns), 11 newborns exhibited hypocitrullinemia; 10 underwent further evaluation. One newborn was diagnosed with CPS1D (compound heterozygous CPS1 variants); another was later diagnosed with Leigh syndrome. The remaining eight cases were false positives, often associated with prematurity, poor feeding, or gastrointestinal disorders. A second dried blood spot (DBS) card protocol was introduced in the second period (34,694 newborns), reducing false positives. One neonatal-onset OTCD case was detected, and citrulline levels were normalized in six of the seven other cases. In summary, hypocitrullinemia can identify presymptomatic PUCDs, and requesting a second DBS card reduces false positives, supporting its feasibility for incorporation into NBS programs.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13300342/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148317153","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 Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps. 摩尔多瓦共和国新生儿脊髓性肌萎缩症筛查：可行性研究和初步步骤。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2026-05-28 DOI: 10.3390/ijns12020038

Iulia Coliban, Natalia Usurelu, Igor Opalco, Sergiu Gladun, Victoria Sacara

{"title":"Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps.","authors":"Iulia Coliban, Natalia Usurelu, Igor Opalco, Sergiu Gladun, Victoria Sacara","doi":"10.3390/ijns12020038","DOIUrl":"10.3390/ijns12020038","url":null,"abstract":"Spinal muscular atrophy (SMA) is a severe neuromuscular disorder in which presymptomatic treatment substantially improves survival and motor outcomes, yet newborn screening for SMA remains unevenly implemented across Europe, and evidence from lower-resource health systems is needed to guide scale-up. In this study, we assessed the feasibility, diagnostic performance, and public health implications of implementing neonatal SMA screening in the Republic of Moldova within an established national newborn screening framework. A pilot genetic screening program was conducted using dried blood spot (DBS) samples collected through routine newborn screening workflows; SMN1 exon 7 deletion testing was performed by real-time polymerase chain reaction (qPCR), and positive findings were confirmed by multiplex ligation-dependent probe amplification (MLPA), alongside the evaluation of operational integration and system-level requirements. Screening was operationally feasible within existing DBS processes and demonstrated high analytical performance, consistent with published international experience, although performance results should be interpreted cautiously due to the limited sample size. Two SMA cases were confirmed in a small cohort, enabling early diagnosis and timely referral for disease-modifying therapy, and integration into the existing program was practical and resource-efficient. These findings support the incorporation of SMA into national newborn screening panels using DBS-based molecular methods, highlighting an implementable model for introducing advanced genetic testing within routine public health services.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13299184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148317098","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 Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, China. 基于单分子实时测序的地中海贫血等位基因综合分析（CATSA）对广西新生儿的前瞻性多中心筛查

IF 3.5

International Journal of Neonatal Screening Pub Date : 2026-05-22 DOI: 10.3390/ijns12020037

Aihua Xia, Hongfei Chen, Fuhua Lu, Ping Xu, Peixiao Shen, Wei Wei, Chunrong Gui, Juliang Liu, Dan Wei, Haipeng Qin, Yan Huang, Ju Long, Baoheng Gui

{"title":"A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, China.","authors":"Aihua Xia, Hongfei Chen, Fuhua Lu, Ping Xu, Peixiao Shen, Wei Wei, Chunrong Gui, Juliang Liu, Dan Wei, Haipeng Qin, Yan Huang, Ju Long, Baoheng Gui","doi":"10.3390/ijns12020037","DOIUrl":"10.3390/ijns12020037","url":null,"abstract":"Thalassemia is one of the most common inherited diseases in Guangxi, China. Early identification of thalassemia by neonatal screening is beneficial for effective clinical management and treatment. A total of 3671 newborns from multiple centers of Guangxi were prospectively recruited and screened for thalassemia using single molecule real-time (SMRT) sequencing technology. A total of 36 types of variants of globin genes were identified, including 16 common variants and 20 rare variants in the Chinese population. In total, 956 (26.04%) newborns were identified to carry thalassemia variants, including 672 (18.31%) α-thalassemia, 228 (6.21%) β-thalassemia, 55 (1.50%) combined α/β-thalassemia and 1 (0.03%) δ-thalassemia. In addition, this study showed that the carrier rates of structural variants of α-globin genes and abnormal hemoglobin variants were 1.28% and 0.93% respectively. Phenotypically, 12 newborns with hemoglobin H disease and 2 cases with intermedia β-thalassemia were found, two of whom would be misdiagnosed by conventional genetic analysis methods. Collectively, this study characterized the complexity and diversity of thalassemia gene variants in newborns of Guangxi, and further achieved early identification of newborns with intermedia thalassemia, which facilitated precision prevention of thalassemia in this region. Also, SMRT provided a powerful tool for neonatal thalassemia screening, especially in prevalent regions.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13262897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148030382","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

Comparison of Four Screening Markers [(C16 + C18:1)/C2, C14/C3, C12/C0, and C12/C2] for Carnitine Palmitoyltransferase II Deficiency in the Nationwide Newborn Screening Program in Japan. 日本全国新生儿筛查中肉毒碱棕榈酰转移酶II缺乏症四种筛查标记物[(C16 + C18:1)/C2、C14/C3、C12/C0和C12/C2]的比较

IF 3.5

International Journal of Neonatal Screening Pub Date : 2026-05-15 DOI: 10.3390/ijns12020036

Go Tajima, Nobuyuki Ishige, Junji Hanai, Keiko Konomura

{"title":"Comparison of Four Screening Markers [(C16 + C18:1)/C2, C14/C3, C12/C0, and C12/C2] for Carnitine Palmitoyltransferase II Deficiency in the Nationwide Newborn Screening Program in Japan.","authors":"Go Tajima, Nobuyuki Ishige, Junji Hanai, Keiko Konomura","doi":"10.3390/ijns12020036","DOIUrl":"10.3390/ijns12020036","url":null,"abstract":"False-positive results are known to occur frequently in newborn screening (NBS) for carnitine palmitoyltransferase II (CPT II) deficiency, highlighting the need to identify appropriate screening markers. The present study aimed to compare the performance of two markers currently used in NBS for CPT II deficiency, (C16 + C18:1)/C2 and C14/C3, with two promising alternative markers, C12/C0 and C12/C2. We analyzed non-patient data from the 2023 fiscal year NBS program together with patient data for CPT II deficiency and very-long-chain acyl-CoA dehydrogenase deficiency derived from previously reported case series. Marker performance was assessed using precision-recall curves, including an analysis in which patients with the myopathic form of CPT II deficiency who passed NBS using (C16 + C18:1)/C2 and C14/C3 were reclassified as true positives. The area under the precision-recall curve values for C12/C2 and C14/C3 were 0.711 (95% confidence interval, 0.492-0.923) and 0.569 (0.341-0.779), respectively, indicating superior performance compared with the other markers. When cases with the myopathic form of CPT II deficiency were included as true positives, the performance of all markers decreased markedly. Although some patients with the myopathic form are still likely to be missed, C12/C2 appears to be an effective marker for reducing false-positive results.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13214869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148030443","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 in Saudi Arabia: Brief History, Current Practice, and Future Direction. 沙特阿拉伯新生儿筛查：简史、当前实践和未来方向。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2026-05-13 DOI: 10.3390/ijns12020035

Ahmed H Mujamammi

{"title":"Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction.","authors":"Ahmed H Mujamammi","doi":"10.3390/ijns12020035","DOIUrl":"10.3390/ijns12020035","url":null,"abstract":"The Saudi Arabia National Newborn Screening (NBS) program is a pillar of public health, offering timely detection of treatable, life-threatening, or disabling conditions in neonates. This comprehensive review critically examines the current laboratory diagnostic practices employed for metabolite analysis within this program. It focuses primarily on biochemical NBS conducted via dried blood spot testing and evaluates the methodologies, technical challenges, and stringent quality assurance measures that underpin successful screening. This review examines the critical role of tandem mass spectrometry, sample integrity protocols, and the establishment of robust cutoff values. Furthermore, this review explores persistent challenges such as false-positive and false-negative results, ethical and logistical hurdles in global implementation, and the transformative potential of recent advancements, including the integration of genomics and high-resolution metabolomics. In addition, this review explores the future of the program, highlighting the transformative potential of high-resolution metabolomics and the integration of genomic sequencing to ensure early diagnosis and intervention.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13214644/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148030410","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}

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