International Journal of Neonatal Screening最新文献

{"title":"Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.","authors":"Yiming Lin, Jinping Zhong, Weilin Peng, Faming Zheng, Xudong Wang","doi":"10.3390/ijns12010018","DOIUrl":"10.3390/ijns12010018","url":null,"abstract":"<p><p>Organic acidemias (OADs) are a group of inherited metabolic disorders with a high false-positive rate in newborn screening. In this study, we aimed to evaluate the clinical performance of next-generation sequencing (NGS) as a combined genetic test for OADs. From September 2022 to August 2025, 154,634 newborns underwent primary screening using tandem mass spectrometry (MS/MS). Among them, 151 neonates with suspected OADs underwent combined genetic screening using a pre-designed NGS panel. Of these, 55 cases tested positive on genetic screening, and 17 were ultimately diagnosed with OADs, yielding a prevalence of 1 in 9096. The positive predictive value of NGS was 30.91% (17/55). The genotypes of nine patients (9/17, 52.9%) were identified through NGS screening. Notably, one case of methylmalonic acidemia that would have been missed by MS/MS screening was successfully identified using the combined genetic screening. Additionally, 37 neonates with positive biochemical screening results were confirmed to be either carriers or unaffected individuals. Two cases of Wilson's disease were also identified through combined genetic screening. Therefore, integrating NGS into conventional MS/MS-based screening can significantly reduce the false-positive rate and shorten the time from screening to definitive diagnosis. This approach provides a valuable model for improving the efficiency and accuracy of newborn genetic screening.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13027079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147529085","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":"Pathogenic Analysis of Two <i>SLC22A5</i> Variants That Alter RNA Splicing in Patients with Primary Carnitine Deficiency.","authors":"Yiming Lin, Yanru Chen, Weihua Lin, Faming Zheng","doi":"10.3390/ijns12010017","DOIUrl":"10.3390/ijns12010017","url":null,"abstract":"<p><p>Functional analysis of <i>SLC22A5</i> variants can improve diagnostic accuracy in patients with primary carnitine deficiency (PCD). Herein, we performed a genetic analysis of three neonates with PCD. Two of the patients harbored a novel synonymous <i>SLC22A5</i> variant that has not been previously reported, and the other patient harbored a classical splice site variant. The splicing patterns of the two <i>SLC22A5</i> variants were evaluated using three in silico tools, and in vitro minigene analysis was performed to verify the impact of variants on RNA splicing mechanisms. All three in silico tools predicted that both <i>SLC22A5</i> variants could alter normal RNA splicing. Functional studies using minigene assays demonstrated that the c.450C>T (p.F150=) leads to partial exon 2 skipping, and c.394-1G>A leads to intron 1 retention and exon 2 skipping. Intron 1 retention of 65 nucleotides and exon 2 skipping were confirmed by sequencing cDNA amplification products. These results, along with functional evidence, led to reclassification of c.450C>T (p.F150=) and c.394-1G>A as likely pathogenic and pathogenic, respectively. This is the first reported synonymous variant in the <i>SLC22A5</i> gene that has been functionally validated to affect RNA splicing, thus enriching the variant spectrum of <i>SLC22A5</i> and aiding accurate PCD diagnosis.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13026843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147529128","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":"Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy.","authors":"Ilaria Bitetti, Rosa Iannaccone, Giovanna Margiotta, Antonio Varone","doi":"10.3390/ijns12010016","DOIUrl":"10.3390/ijns12010016","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is a rare neuromuscular disorder causing progressive muscle weakness. Severe SMA forms are typically observed up to six months postnatally. Disease-modifying therapies provide significant benefits, making newborn screening (NBS) essential for timely diagnosis and treatment initiation. The NBS programme evaluated infants born between April 2023 and October 2024 in the Campania region, Italy. DNA was amplified to detect homozygous deletion of the SMN1 gene by RT-PCR and <i>SMN2</i> copy number using multiplex ligation-dependent probe amplification. Following treatment, motor functions were assessed using CHOP-INTEND and Bayley III scales. Among 62,801 infants screened for SMA, thirteen (11 females, 2 males) tested positive. The distribution of <i>SMN2</i> copy numbers was as follows: eight patients had two copies, one patient had three, and four patients had four copies. One year after treatment, motor outcome data were available for four of the eight patients with two <i>SMN2</i> copies. Among these patients, one achieved the milestones of walking without support, and three were standing with support. At 24 months, three of these patients were walking independently. Pre-symptomatic treatment markedly improves motor function development. This underscores the urgent need for large-scale newborn screening to prevent diagnostic delays and ensure timely, effective therapy. Validated care protocols must be established to facilitate early diagnosis and intervention.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13027134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147529149","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":"Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis.","authors":"Rithika Thampy, Nishitha R Pillai, Michael Evans, Chester B Whitley, Paul J Orchard, Matthew Ellinwood, Amy Gaviglio","doi":"10.3390/ijns12010015","DOIUrl":"10.3390/ijns12010015","url":null,"abstract":"<p><p>Mucopolysaccharidosis type I (MPS I) results in the accumulation of glycosaminoglycans (GAG) and, for the purposes of newborn screening, is differentiated into two forms: severe (Hurler syndrome) versus attenuated (encompassing Scheie and Hurler-Scheie syndromes). MPS I was added to the federal Recommended Uniform Screening Panel for newborn screening (NBS) in 2016, and as of December 2025, 45 of 54 programs in the United States (US) screen for MPS I. Within the newborn screening program, a second-tier analysis of GAG is thought to reduce false-positive rates, particularly through mitigating the detection of pseudodeficiency. However, there have been some concerns that the use of second-tier GAG analysis might inadvertently result in missed detection of attenuated cases. A survey of all US NBS programs was conducted requesting data on the total number of screen-positive NBS results for MPS I as well as the final diagnostic outcome from these results. Diagnostic outcomes after screening were classified as false-positive, pseudodeficiency, severe MPS I, attenuated MPS I, and MPS I of undetermined phenotype. Additionally, information on testing methodologies and dates of MPS I NBS implementation was collected. Responses were obtained from 32 NBS programs. The cohort of screening programs utilizing second-tier blood spot GAG determinations detected a higher proportion of severe cases than those not using this second-tier test (48% vs. 29%). The proportion of attenuated cases remained consistent between both groups (13% vs. 14%). The proportion of pseudodeficiency detection was only slightly lower in the cohort using second-tier GAG analysis (85% vs. 91%). Second-tier GAG analysis appears to reduce the detection of false-positive cases and improves the resolution of severe MPS I cases, though the proportion of pseudodeficiency was only slightly lower compared to the programs that do not use second-tier GAG analysis. Currently, the proportion of attenuated cases is comparable between the two cohorts, but the higher number of \"undetermined phenotype\" cases may eventually shift the balance toward states not using GAG analysis once the type is determined.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13026396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147529152","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":"Current Status of Newborn Screening in Southeastern and Central Europe.","authors":"Nika Požun, Daša Perko, Violeta Anastasovska, Ivo Barić, Mihail Baša, Tadej Battelino, Iva Bilandžija, Ian Brincat, Miloš Brkušanin, Maja Djordević, Ivanka Dimova, Ana Drole Torkar, Ksenija Fumić, Sergiu Gladun, Panagiotis Girginoudis, Ildikó Szatmári, Ivana Kavečan, Jasmina Katanić, Vjosa Kotori, Nina Marić, Jelena Martić, Olja Manđarelo, Tatjana Milenković, Matej Mlinarič, Florentina Moldovanu, Michaela Nanu, Péter Monostori, Iskra Modeva, Branka Opančina, Dimitris Platis, Maja Raičević, Žiga Iztok Remec, Barbka Repič Lampret, Alexey Savov, Anastasia Skouma, Aleksandar Sovtić, Iva Stoeva, Alma Toromanović, Domen Trampuž, Natalia Usurelu, Jelena Višekruna, Marios Vogazianos, Maximillian Zeyda, Mojca Žerjav Tanšek, Urh Grošelj","doi":"10.3390/ijns12010014","DOIUrl":"10.3390/ijns12010014","url":null,"abstract":"<p><p>Newborn screening (NBS) is a well-established public health program that enables early detection and treatment of rare disorders in newborns, preventing severe complications or death. Despite its recognized importance, the scope and implementation of NBS programs vary across Southeastern (SE) and Central Europe. This study aimed to evaluate the current status of NBS in 16 countries of SE and Central Europe and assess progress since the previous survey in 2021. A structured questionnaire was distributed to national experts between April and December 2025, collecting data on program organization, coverage, diseases included, laboratory methods, confirmatory testing, consent practices, and future expansion plans. All countries reported universal screening for congenital hypothyroidism, except Kosovo, where a national NBS is in the process of being established. Expanded NBS using tandem mass spectrometry was available in Austria, Bulgaria, Croatia, Cyprus, Greece, Hungary, North Macedonia, Romania, and Slovenia. Spinal muscular atrophy screening became universal in Austria, Croatia, Hungary, Serbia, and Slovenia. Most countries reported plans for further expansion, with congenital adrenal hyperplasia, severe combined immunodeficiency, spinal muscular atrophy, and cystic fibrosis being the most frequently targeted conditions. Although notable infrastructural progress has been achieved, financial constraints, lack of staff, and organizational barriers remain key challenges. The study's assessment of program effectiveness was further limited by the absence of region-wide systems for capturing end-to-end performance indicators, such as the age of the infant at treatment initiation or missed cases. Regional collaboration and adoption of best practices are therefore vital to ensure equitable access and continuous advancement of NBS programs.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13026941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147529133","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":"Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.","authors":"Ekaterina Y Zakharova, Galina V Baydakova, Polina V Baranova, Darya Y Aleksandrova, Olga A Shchagina, Yulia S Itkis, Natalya V Milovanova, Tatyana S Nagornova, Olga N Ivanova, Yana D Nazarenko, Sergey V Voronin, Alena L Chukhrova, Varvara A Kadnikova, Ekaterina E Lotnik, Nina V Ryadninskaya, Aleksander V Polyakov, Kirill V Savostyanov, Fanil S Bilalov, Alexander L Koroteev, Dmitry Y Trofimov, Tatyana A Bairova, Gulnara N Seitova, Sergei V Mordanov, Svetlana A Matulevich, Elena B Nikolaeva, Sergey I Kutsev","doi":"10.3390/ijns12010013","DOIUrl":"10.3390/ijns12010013","url":null,"abstract":"<p><p>In 2023, the Russian Federation expanded its national newborn screening (NBS) program from 5 to 36 conditions, 29 of which are inherited metabolic diseases (IMDs). This study presents the first nationwide results and outcomes of the expanded NBS program. Between January 2023 and December 2024, dried blood spots from 2,466,615 newborns (98.53% of the birth cohort) were analyzed for IMDs using MS/MS. Screen-positive cases were referred to the national reference center for confirmatory testing, which included biochemical (MS/MS and GC-MS) and genetic analyses (NGS). A total of 41,728 neonates (1.69%) screened positive, of whom 37,733 underwent confirmatory testing. It resulted in 834 confirmed diagnoses of IMDs (1 in 2900 live births). Phenylketonuria was the most prevalent IMD (<i>n</i> = 538; 1 in 4600), followed by MCADD (<i>n</i> = 99; 1 in 25,000). Distinct regional and ethnic variations were observed, including a high prevalence of tyrosinemia type 1 in the Chechen Republic and MCADD in North Ossetia. The integration of NGS was essential for resolving complex cases, such as identifying heterozygous carriers and dual diagnoses. These findings underscore the program's clinical utility, highlight unique epidemiological patterns, and identify challenges such as false positives and diagnostic complexities, which will guide future refinements.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13027380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147529139","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":"Pediatric Residents' Awareness and Practices Toward Critical Congenital Heart Disease Screening in Saudi Arabia: A Multicenter Study.","authors":"Hussien Abdo Babiker, Turki Omaish Alotaibi, Hiba Hassan, Sulaiman Almohaimeed, Shadin Alamrah, Asalah Alhazmi, Abdulwahab H Alharbi","doi":"10.3390/ijns12010012","DOIUrl":"10.3390/ijns12010012","url":null,"abstract":"<p><p>Critical congenital heart disease (CCHD) is a major cause of neonatal morbidity and mortality. Pulse oximetry screening enables early detection, potentially reducing complications and improving outcomes. This study evaluated pediatric residents' knowledge, attitudes, and practices (KAP) related to CCHD screening in Saudi Arabia. A cross-sectional survey was distributed to pediatric residents across Saudi Arabia. The questionnaire assessed knowledge, attitude, and practice regarding CCHD screening. A total of 123 pediatric residents in training were included in the study. Of these, 57 (46.3%) were male, and 66 (53.7%) were female. A progressive increase in mean scores was observed with advancing training years (<i>p</i> = 0.010). A significant difference was observed in knowledge scores based on completion of a cardiology rotation (<i>p</i> = 0.006). A progressive increase in attitude scores was observed with each successive year of training. Current year in training showed a statistically significant association with attitude scores (<i>p</i> < 0.001). Completion of a newborn nursery or NICU rotation was also significantly associated with higher attitude scores (<i>p</i> = 0.027). Similarly, attitude scores were significantly higher among those who had completed a cardiology rotation (mean = 12.99, SD = 1.52) compared to those who had not (mean = 11.60, SD = 1.84; <i>p</i> < 0.001). While practice scores were not statistically different across most groups, senior residents demonstrated better adherence to screening. Residents exhibit increasing awareness and positive attitudes with experience; however, practical implementation remains inconsistent. Targeted education and standardized protocols are necessary to improve outcomes. A positive correlation was observed between knowledge and attitude scores (r = 0.346, <i>p</i> < 0.001).</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13026219/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147529123","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":"Exposure to CFTR Modulators During Pregnancy in Cystic Fibrosis: Four Cases to Highlight Neonatal Diagnostic Challenges and Outcomes.","authors":"Louis Domenach, Adrien Pagin, Camille Cisterne, Marie-Pierre Audrezet, Laure Couderc, Laetitia Monteil, Léa Roditis, Marlène Murris, Julie Macey, Michael Fayon, Stéphanie Bui, Marie-Pierre Reboul","doi":"10.3390/ijns12010011","DOIUrl":"10.3390/ijns12010011","url":null,"abstract":"<p><p>CFTR modulators have transformed the clinical evolution of patients with CF. The number of pregnancies is increasing in women with CF, most of whom are now treated with CFTR modulators such as elexacaftor/tezacaftor/ivacaftor (ETI) or Tezacaftor/Ivacaftor. This raises some questions as we still lack data on foetal and maternal safety. The preliminary data seem to support the continuation of modulators. Some of these mothers may also give birth to newborns with CF and this raises more questions. We report here four cases of CF newborns whose mothers were treated with CFTR modulators throughout pregnancy to help refine potential foetal outcomes of in utero administration of CF modulators. No maternal or foetal complications could be attributed to CFTR modulators. Three CF newborns were exposed to ETI and were false negative of the newborn screening. Two of them were pancreatic sufficient at birth. The remaining patient, exposed to Tezacaftor/Ivacaftor (TI) alone, showed elevated immunoreactive trypsin (IRT) and severe pancreatic insufficiency at birth. These cases highlight that in utero administration of ETI could potentially improve neonatal outcomes of CF newborns and cause newborn screening false negative.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13026445/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147529118","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":"Birth Prevalence of Sickle Cell Disease in India: A Systematic Review and Meta-Analysis.","authors":"Emine A Rahiman, Rajendra Prasad Anne, Rajasekharan P Warrier","doi":"10.3390/ijns12010010","DOIUrl":"10.3390/ijns12010010","url":null,"abstract":"<p><p>Newborn screening helps identify sickle cell disorder (SCD) early and to promptly initiate effective measures. It is estimated that India accounts for approximately 16% of global annual births with SCD. Multiple reports of screening for SCD in India have emerged in the last decade. Our aim was to pool the birth prevalence of SCD and sickle cell trait (SCT). A systematic review of published evidence on nontargeted, universal screening for SCD or SCT in newborns was performed (16 studies). The pooled prevalence of SCD was 1100 per 100,000 (10 studies, 88,276 neonates, 95% CI: 432, 1768), while that of SCT was 9639 per 100,000 (7 studies, 72,702 neonates, 95% CI: 6283, 12,995) in endemic regions. Limited data exist from nonendemic regions. Only three studies had data on follow-up and confirmatory genetic diagnosis. Sparse data exist on cost-effectiveness, long-term follow-up, and the impact of early screening on mortality. Concerted ongoing efforts in the identification of the burden are needed. The needs of the hour are universalization of NBS, integration into existing health systems, and maintenance of birth cohorts with early introduction of penicillin prophylaxis, hydroxyurea, parental education, appropriate immunization, and continued follow-up by an experienced medical team.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13027069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147529112","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":"Trends in the Timeliness of Spinal Muscular Atrophy Detection in US Infants, 2016-2023.","authors":"Scott D Grosse, Kai Hong, Golriz K Yazdanpanah, Ashley Nash, Amy Gaviglio, Marcus Gaffney, Kendra A K Lawrence, Jennifer M Kwon","doi":"10.3390/ijns12010009","DOIUrl":"10.3390/ijns12010009","url":null,"abstract":"<p><p>Screening for spinal muscular atrophy (SMA) was adopted by all US state newborn screening programs between 2018 and 2024; by the end of 2022, 48 states were screening for SMA. We assessed trends in health insurance records of SMA diagnoses to quantify improvements in the timeliness of SMA identification following the adoption of screening. We used nationally representative Medicaid claims data for approximately half of US births covered by public insurance and a convenience sample of employer-sponsored health plans. We analyzed records for birth cohorts with at least 1 full year of follow-up (i.e., through the end of the following calendar year). For 2017 births, 1.3 per 100,000 infants had SMA codes first recorded by 1 month of age; this increased to 6.6 per 100,000 among publicly insured newborns born in 2022. The rollout of SMA newborn screening across US states was also followed by improvements in the timely detection of SMA. The proportion of infants with SMA detected by 1 month increased from 18% in 2017 to 61% in 2021 and is projected to reach 75% in 2022. Growth in timely detection was even greater in the employer-insured sample. Timely diagnosis of SMA can enable the initiation of treatment prior to the irreversible loss of motor function.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13027143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147529107","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}