International Journal of Neonatal Screening最新文献

{"title":"The Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand.","authors":"Khunton Wichajarn, Nopporn Sawatjui, Prinya Prasongdee, Amrin Panklin, Kanda Sornkayasit, Natchita Chungkanchana, Supharada Tessiri, Preawwalee Wintachai, Sumalai Dechyotin, Chalanda Pasomboon, Jilawaporn Ratanapontee, Sureerat Thanakitsuwan, Aree Rattanathongkom","doi":"10.3390/ijns11020026","DOIUrl":"https://doi.org/10.3390/ijns11020026","url":null,"abstract":"<p><p>Expanded newborn screening (NBS) programs are essential for early detection and treatment. This study highlights the implementation of an expanded NBS program for inborn errors of metabolism (IEMs) and congenital hypothyroidism (CH) in rural Thailand, focusing on Health Regions 7 and 8 as a model for resource-limited settings. Using the KKU-IEM web-based platform, the program streamlined workflows, integrating logistics, real-time sample tracking, and electronic data management. Regular training sessions, continuous feedback, and systematic monitoring improved outcomes. Starting from October 2022, the program covered 98.6% of 123,692 live births, identifying 101 CH cases (1 in 1208 live births) and 20 IEM cases (1 in 6100 live births). The CH incidence was slightly higher than Thailand's national average, while the IEM incidence was double that found in a previous Bangkok pilot study. Six cases highlighted maternal conditions affecting outcomes. Process improvements reduced the average reporting time from 9.13 days in 2023 to 8.4 days in 2024, with a 19% reduction in Bueng Kan Province. Efficiencies were driven by electronic ordering, real-time tracking, and stakeholder collaboration. This program demonstrates a scalable model for rural settings, emphasizing technology integration, collaboration, and quality control. Future efforts should refine diagnostics, expand disease coverage, and enhance long-term outcomes.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965303","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":"Rethinking Newborn Screening: A Case of GALM Deficiency.","authors":"Eva M M Hoytema van Konijnenburg, Silvia Radenkovic, Klaas Koop, Hubertus C M T Prinsen, Monique de Sain-van der Velden","doi":"10.3390/ijns11020025","DOIUrl":"https://doi.org/10.3390/ijns11020025","url":null,"abstract":"<p><p>Galactosemia is a group of hereditary disorders of galactose metabolism. A new type of galactosemia was discovered, caused by a deficiency in galactose mutarotase (GALM), which catalyzes the epimerization between beta- and alpha-D-galactose. All GALM-deficient patients reported in the literature (n = 44) had abnormal newborn screening (NBS) results or did not receive NBS (n = 2). We present the first patient with GALM deficiency who had negative NBS in the Netherlands and was identified at age 1.5 years during broad metabolic screening because of her global developmental delay, nystagmus, and a history of jaundice. Biochemical evaluation showed a significantly increased excretion of galactose (13,167 mmol/mol creatinine, upper limit of normal (ULN) 326) and galactitol (427 mmol/mol creatinine, ULN 71). Whole exome sequencing showed homozygous variants in <i>GALM</i> (c.424G>A p.(Gly142Arg)). A galactose-restricted diet was started, resulting in biochemical normalization. We present a comprehensive review of GALM-deficient patients, NBS data, and treatment. Different designs of galactosemia screening may lead to overlooking patients with GALM deficiency. Although the effects of lactose-restricted diet are largely unknown, a diet might prevent cataract in some patients.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015779/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988541","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":"Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation.","authors":"Meghan E McGarry, Karen S Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M Christine Dorley, Steven Hicks, Clement L Ren, Kathryn Tullis, Debra Freedenberg, Q Eileen Wafford, Sarah E Hempstead, Marissa A Taylor, Albert Faro, Marci K Sontag, Susanna A McColley","doi":"10.3390/ijns11020024","DOIUrl":"https://doi.org/10.3390/ijns11020024","url":null,"abstract":"<p><p>Newborn screening for cystic fibrosis (CF) has been universal in the US since 2010; however, there is significant variation among newborn screening algorithms. Systematic reviews were used to develop seven recommendations for newborn screening program practices to improve timeliness, sensitivity, and equity in diagnosing infants with CF: (1) The CF Foundation recommends the use of a floating immunoreactive trypsinogen (IRT) cutoff over a fixed IRT cutoff; (2) The CF Foundation recommends using a very high IRT referral strategy in CF newborn screening programs whose variant panel does not include all CF-causing variants in CFTR2 or does not have a variant panel that achieves at least 95% sensitivity in all ancestral groups within the state; (3) The CF Foundation recommends that CF newborn screening algorithms should not limit <i>CFTR</i> variant detection to the F508del variant or variants included in the American College of Medical Genetics-23 panel; (4) The CF Foundation recommends that CF newborn screening programs screen for all CF-causing <i>CFTR</i> variants in CFTR2; (5) The CF Foundation recommends conducting <i>CFTR</i> variant screening twice weekly or more frequently as resources allow; (6) The CF Foundation recommends the inclusion of a <i>CFTR</i> sequencing tier following IRT and <i>CFTR</i> variant panel testing to improve the specificity and positive predictive value of CF newborn screening; (7) The CF Foundation recommends that both the primary care provider and the CF specialist be notified of abnormal newborn screening results. Through implementation, it is anticipated that these recommendations will result in improved sensitivity, equity, and timeliness of CF newborn screening, leading to improved health outcomes for all individuals diagnosed with CF following newborn screening and a decreased burden on families.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Review of Newborn Screening for VLCADD: The Wisconsin Experience.","authors":"Breanna Mitchell, Jessica Scott-Schwoerer, Ashley Kuhl, Kristina Garcia, Patrice Held","doi":"10.3390/ijns11020023","DOIUrl":"https://doi.org/10.3390/ijns11020023","url":null,"abstract":"<p><p>Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is due to a defect in metabolism of long-chain fatty acids. Infants with VLCADD may experience cardiomyopathy, hypoglycemia, or even death; thus, early detection and intervention is crucial. The spectrum of disease and natural variation in newborn metabolism, however, lead to overlap in acylcarnitine values between affected and unaffected individuals, which contributes to the difficulty in identifying true positive cases while minimizing false positive cases. VLCADD was added to the state of Wisconsin's newborn screening (NBS) panel in 2000. A previous retrospective review of VLCADD screen positive cases identified between 2000 and 2014 resulted in a change to the screening algorithm. Following implementation, a reduction in the percentage of false positive screens from 25.3% to 20.4% was observed between 2015 and 2021. The overall PPV also decreased, from 37.2% to 28%, due to an increase in the number of carriers identified (27.5% of cases in 2000-2014 and 51.8% of cases in 2015-2021). A data review also identified three long-chain acylcarnitine elevations (C14:1, C14:1/C16, and C14:1/C2) that had statistically significant differences in concentrations in true positive populations versus false positive populations. Utilization of the C14:1, C14:1/C16, and C14:1/C2 values in newborn screening may provide clearer distinction between true positive and carrier populations and additionally increase the PPV of this screen.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 2","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003321","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 of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.","authors":"Xudong Wang, Xingxiu Lu, Faming Zheng, Kun Lin, Minjuan Liao, Yi Dong, Tiantian Chen, Ying He, Mei Lu, Jing Chen, Yanfang Li, Yulin Zhou","doi":"10.3390/ijns11010022","DOIUrl":"10.3390/ijns11010022","url":null,"abstract":"<p><p>Long-read sequencing (LRS) provides comprehensive genetic information, but research of LRS applied to congenital adrenal hyperplasia (CAH) newborn screening is limited. This study aimed to evaluate the clinical utility of LRS in genetic diagnosis and second-tier newborn screening. Neonates born between January 2017 and December 2022 in Fujian, China, were recruited for biochemical and LRS-based genetic screening assay. The LRS covers the entire gene regions and exon-intron boundary regions for <i>CYP21A2</i>, <i>CYP11B1</i>, <i>CYP17A1</i>, <i>HSD3B2</i>, and <i>StAR</i>. In this retrospective study, 1,774,555 newborns received 17α-OHP screening, yielding a screening positive rate of 0.20%. Of these high-risk neonates, 3411 were successfully recalled for re-evaluation. Finally, 66 neonates were diagnosed with CAH, with a positive predictive value of 28.82%. Based on this data, the overall prevalence of CAH in Fujian was estimated to be 1:26,883. LRS was performed on 57 neonates with 21-hydroxylase deficiency (21-OHD) and 109 variant alleles were identified. The c.293-13C>G variant (31.19%) was the most prevalent in Fujian. Additionally, 647 neonates with suspected positive results were genotyped, and 41 were identified as carriers, with carrier frequencies of 1:18 for <i>CYP21A2</i>, 1:162 for <i>HSD3B2</i>, and 1:324 for <i>CYP17A1</i> in Xiamen. Therefore, LRS can provide comprehensive genotypes in approximately 1.5 days at a cost of less than $20 USD per sample, and effectively improve screening efficiency, reduce anxiety of parents during newborn screening (NBS), and shorten the time to referral of CAH patients (approximately 10 days). Such a combined screening strategy is worthy to be recommended for NBS programs in the future.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942758/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709764","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 the Florida Newborn Screening Program Education Campaign.","authors":"Mirine Richey, Cynthia B Wilson, Minna Jia, Travis Galbraith","doi":"10.3390/ijns11010020","DOIUrl":"10.3390/ijns11010020","url":null,"abstract":"<p><p>Florida's Newborn Screening Program campaign aims to increase the awareness and participation of birthing facilities, providers, and parents. This evaluation aimed to determine the effectiveness and reach of the Newborn Screening Program (NBS) Statewide Educational Campaign to pregnant women through surveys and focus groups. The online survey, conducted throughout Florida in English, Spanish, and Haitian Creole, evaluated the reach and effectiveness of educational materials such as paid advertisements and brochures. The surveys also served to recruit participants for in-person focus groups throughout the state. The findings showed that 85.3% of the mothers had discussions with health professionals about the screening program, while others did not hear about it from health professionals. More than 50% of the respondents learned about the program through health facilities, with additional exposure from media platforms such as television, radio, and friends. This study shows the need for increased outreach of the campaign and better communication and education from medical professionals to increase awareness.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709769","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":"Oral and Poster Abstracts of the 13th ISNS European Regional Meeting.","authors":"Kate Hall, Peter C J I Schielen, Dimitris Platis","doi":"10.3390/ijns11010021","DOIUrl":"10.3390/ijns11010021","url":null,"abstract":"<p><p>This Abstract Book contains abstracts of oral and poster presentations of the 13th ISNS European Regional Meeting in Luxembourg, held from 23 to 26 March 2025.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709781","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":"Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.","authors":"Hind Alsharhan, Amir A Ahmed, Marwa Abdullah, Moudhi Almaie, Makia J Marafie, Ibrahim Sulaiman, Reem M Elshafie, Ahmad Alahmad, Asma Alshammari, Parakkal Xavier Cyril, Usama M Elkazzaz, Samia M Ibrahim, Mohamed Elghitany, Ayman M Salloum, Fahmy Yassen, Rasha Alsafi, Laila Bastaki, Buthaina Albash","doi":"10.3390/ijns11010019","DOIUrl":"10.3390/ijns11010019","url":null,"abstract":"<p><p>Newborn screening for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency in Kuwait was initiated in October 2014. Over a 7-year period (January 2015 to December 2021), 43 newborns were diagnosed with VLCAD deficiency out of 356,819 screened, corresponding to an incidence of 1:8290 and 1:5405 among only Kuwaiti newborns. This study represents the first comprehensive review of newborn screening for VLCAD deficiency in Kuwait. The screening process begins with the detection of elevated blood C14:1 levels in dried blood spots, followed by confirmatory testing using dried blood spots acylcarnitine profiling, with or without molecular testing. Furthermore, this study demonstrates that incorporating the C14:1/C2 ratio as a supplementary marker in first-tier testing alongside C14:1 improves the positive predictive value (PPV) of the current newborn screening for VLCAD deficiency. Adding molecular genetic testing for known VLCAD variants as a second-tier strategy to the national program is also recommended to further enhance specificity and improve PPV. Our findings provide evidence that the expanded newborn screening program in Kuwait has successfully facilitated the early detection of VLCAD deficiency, preventing death and disability in affected infants.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709773","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":"International Survey on Phenylketonuria Newborn Screening.","authors":"Domen Trampuž, Peter C J I Schielen, Rolf H Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič Lampret, Tadej Battelino, Isns Study Group On Pku, Francjan J van Spronsen, James R Bonham, Urh Grošelj","doi":"10.3390/ijns11010018","DOIUrl":"10.3390/ijns11010018","url":null,"abstract":"<p><p>Newborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers. To evaluate the Phenylketonuria newborn screening practices internationally, we designed a survey with questions focusing on the laboratory aspect of the screening system. We analyzed 24 completed surveys from 23 countries. Most participants used the same sampling age range of 48-72 h; they used tandem mass spectrometry and commercial non-derivatized kits to measure phenylalanine (Phe), and had non-negative cut-off values (COV) set mostly at 120 µmol/L of Phe. Participants mostly used genetic analysis of blood and detailed amino acid analysis from blood plasma as their confirmatory methods and set the COV for the initiation of dietary therapy at 360 µmol/L of Phe. There were striking differences in practice as well. While most participants reported a 48-72 h range for age at sampling, that range was overall quite diverse Screening COV varied as well. Additional screening parameters, e.g., the phenylalanine/tyrosine ratio were used by some participants to determine the screening result. Some participants included testing for tetrahydrobiopterin deficiency, or galactosemia in their diagnostic process. Results together showed that there is room to select a best practice from the many practices applied. Such a best practice of PKU-NBS parameters and post-screening parameters could then serve as a generally applicable guideline.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709777","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":"Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening.","authors":"Maria Jose de Castro Lopez, Fiona J White, Victoria Holmes, Jane Roberts, Teresa H Y Wu, James A Cooper, Heather J Church, Gemma Petts, Robert F Wynn, Simon A Jones, Arunabha Ghosh","doi":"10.3390/ijns11010017","DOIUrl":"10.3390/ijns11010017","url":null,"abstract":"<p><p>Wolman disease (WD) is a lethal disorder defined by the deficiency of the lysosomal acid lipase enzyme. Patients present with intestinal failure, malnutrition, and hepatosplenomegaly. Enzyme replacement therapy (ERT) with dietary substrate reduction (DSR) significantly improves survival. We sought to determine the outcomes of two siblings with WD treated after the onset of symptoms (sibling 1) and presymptomatic (sibling 2). A chart review was conducted on two siblings with WD treated with ERT and DSR at 4 months of age (sibling 1) and immediately after birth (sibling 2) to determine clinical outcomes based on survival, laboratory results, growth, dietary records, and gut biopsies. Sibling 1 presented with hepatosplenomegaly and liver dysfunction and developed hemophagocytic lymphohistiocytosis despite treatment. She received a bone marrow transplant at 8 months of age but died at 13 months. Sibling 2 is alive at 16 months of age with height, weight, and MUAC above the 95th centile, fully orally fed, with no gastrointestinal symptoms, normal liver function, and normal oxysterols. Sibling 2 duodenal biopsies show normal villus architecture with no foamy macrophage infiltration. Initiation of treatment prior to the onset of symptoms can prevent clinical manifestations and increase survival. The divergent trajectory in these siblings raises the question of WD's candidacy for newborn screening.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709767","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}