International Journal of Neonatal Screening最新文献

{"title":"Seasonal Fluctuations and Stability of Adenosine in Dried Blood Spots for Neonatal Screening.","authors":"Xiangchun Yang, Jing Liu, Xia Li, Dongyang Hong, Shanshan Wu, Changshui Chen, Haibo Li","doi":"10.3390/ijns11030063","DOIUrl":"10.3390/ijns11030063","url":null,"abstract":"<p><p>Seasonal and environmental factors, including temperature, humidity, and storage conditions, significantly impact the stability of biochemical markers in dried blood spot (DBS) samples. This study investigates these influences specifically for adenosine (ADO) levels, a critical biomarker for neonatal screening of adenosine deaminase (ADA) deficiency. This study analyzed seasonal fluctuations in ADO concentrations across three regions in China (Ningbo, Nanjing, and Changsha) over 11 months, and evaluated ADO stability under different storage conditions (4 °C, 20 °C, and 40 °C). ADO levels demonstrated significant seasonal variability, peaking in July-August. Median concentrations increased by 111-189% in warmer months compared to winter across all sites. Storage experiments showed that ADO was most stable at 4 °C (fluctuations < 5% over 7 days), while levels at 40 °C increased by 18%. Re-adjusting the ADO reference range based on seasonal data reduced false positive rates from 2.48% to 0.15%, a 94% reduction. This study underscores the necessity of implementing seasonally dynamic reference ranges and strict cold-chain storage (4 °C) to enhance screening accuracy for ADA deficiency. The findings provide a robust foundation for optimizing neonatal screening protocols globally, especially in regions with distinct seasonal climates.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953949","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":"Communication of an Abnormal Metabolic Newborn Screening Result in the Netherlands: A Qualitative Exploratory Study of the General Practitioner's Perspective.","authors":"Sietske Haitjema, Charlotte M A Lubout, Justine H M Zijlstra, Rendelien K Verschoof-Puite, Francjan J van Spronsen","doi":"10.3390/ijns11030062","DOIUrl":"10.3390/ijns11030062","url":null,"abstract":"<p><p>Newborn screening (NBS) for inherited metabolic diseases (IMD) aims to find children in which immediate action can prevent severe symptoms. We previously studied parental satisfaction with the communication of the NBS result for phenylketonuria, which in the Netherlands is done by the general practitioners (GPs). More than half of all parents were unsatisfied with the communication of the abnormal NBS result. The aim of this qualitative exploratory study was to portray a number of GPs' opinions and experiences in communicating an abnormal metabolic NBS result. We performed semi-structured interviews with ten GPs to evaluate the process of communicating the abnormal NBS result. An additional two GPs provided their answers via email. The data revealed four key themes: (1) dealing with the urgency of the metabolic NBS result, (2) the role of the GP in the NBS process, (3) the current organization of NBS in the Netherlands and (4) evaluating roles and responsibilities in communicating abnormal metabolic NBS results. Despite the willingness of GPs to inform parents about NBS results, it is questionable whether they have the necessary tools to effectively conduct these conversations given their limited experience with IMDs. In light of the increasing number of diseases in the NBS program, it would be interesting to explore alternative tools for communicating the NBS result to parents.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953759","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":"Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia.","authors":"Sayaka Suzuki-Ajihara, Ikuma Musha, Masato Arao, Koki Mori, Shunsuke Fujibayashi, Ihiro Ryo, Tomotaka Kono, Asako Tajima, Hiroshi Mochizuki, Atsuko Imai-Okazaki, Ryuichiro Araki, Chikahiko Numakura, Akira Ohtake","doi":"10.3390/ijns11030061","DOIUrl":"10.3390/ijns11030061","url":null,"abstract":"<p><p>Congenital portosystemic shunts (CPSSs) are often associated with life-threatening systemic complications, which may be detected by identifying hypergalactosemia in newborn screening (NBS). However, diagnosing CPSS at an early stage is not easy. The purpose of this study was to predict CPSS early using screening values and general blood tests. The medical records of 153 patients with hypergalactosemia who underwent NBS in Saitama Prefecture between 1 December 1997 and 31 October 2023 were retrospectively analyzed. We provided the final diagnosis of the analyzed patients. Of the 153 patients, 44 (29%) were in the CPSS group and 83 (54%) were in the transient galactosemia group. Using the initial screening items and the six blood test items, we attempted to extract a CPSS group from the transient galactosemia group. Finally, a model for CPSS prediction was established. From multiple logistic regression analysis, filtered blood galactose-1 phosphate/galactose, serum total bile acid, and ammonia were adopted as explanatory variables for the prediction model. If the cut-off value for predicted disease probability value (P) was >0.357, CPSS was identified with 86.4% sensitivity (95%CI 72.6-94.8%) and 81.9% specificity (95%CI 72.0-89.5%). This predictive model might allow prediction of CPSS and early intervention.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953784","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":"Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.","authors":"Mylène Donge, Sandrine Marie, Amandine Pochet, Lionel Marcelis, Geraldine Luis, François Boemer, Clément Prouteau, Samir Mesli, Matthias Cuykx, Thao Nguyen-Khoa, David Guénet, Aurélie Empain, Magalie Barth, Benjamin Dauriat, Cécile Laroche-Raynaud, Corinne De Laet, Patrick Verloo, An I Jonckheere, Manuel Schiff, Marie-Cécile Nassogne, Joseph P Dewulf","doi":"10.3390/ijns11030059","DOIUrl":"10.3390/ijns11030059","url":null,"abstract":"<p><p>Pyridoxine-dependent epilepsy (PDE) represents a group of rare developmental and epileptic encephalopathies. The most common PDE is caused by biallelic pathogenic variants in <i>ALDH7A1</i> (PDE-ALDH7A1; OMIM #266100), which encodes α-aminoadipate semialdehyde (α-AASA) dehydrogenase, a key enzyme in lysine catabolism. Affected individuals present with seizures unresponsive to conventional anticonvulsant medications but responsive to high-dose of pyridoxine (vitamin B6). Adjunctive lysine restriction and arginine supplementation have also shown potential in improving neurodevelopmental outcomes. Given the significant benefit of early intervention, PDE-ALDH7A1 is a strong candidate for newborn screening (NBS). However, traditional biomarkers are biochemically unstable at room temperature (α-AASA and piperideine-6-carboxylate) or lack sufficient specificity (pipecolate), limiting their utility for biomarker-based NBS. The recent identification of two novel and stable biomarkers, 2S,6S-/2S,6R-oxopropylpiperidine-2-carboxylate (2-OPP) and 6-oxo-pipecolate (oxo-PIP), offers renewed potential for biochemical NBS. We evaluated the feasibility of incorporating 2-OPP, oxo-PIP, and pipecolate into routine butylated FIA-MS/MS workflows used for biochemical NBS. A total of 9402 dried blood spots (DBS), including nine confirmed PDE-ALDH7A1 patients and 9393 anonymized controls were analyzed using a single multiplex assay. 2-OPP emerged as the most sensitive biomarker, identifying all PDE-ALDH7A1 patients with 100% sensitivity and a positive predictive value (PPV) of 18.4% using a threshold above the 99.5th percentile. Combining elevated 2-OPP (above the 99.5th percentile) with either pipecolate or oxo-PIP (above the 85.0th percentile) as secondary marker detected within the same multiplex FIA-MS/MS assay further improved the PPVs to 60% and 45%, respectively, while maintaining compatibility with butanol-derivatized method. Notably, increasing the 2-OPP threshold above the 99.89th percentile, in combination with either pipecolate or oxo-PIP above the 85.0th percentile resulted in both 100% sensitivity and 100% PPV. This study supports the strong potential of 2-OPP-based neonatal screening for PDE-ALDH7A1 within existing NBS infrastructures. The ability to multiplex 2-OPP, pipecolate and oxo-PIP within a single assay offers a robust, practical, high-throughput and cost-effective approach. These results support the inclusion of PDE-ALDH7A1 in existing biochemical NBS panels. Further prospective studies in larger cohorts are needed to refine cutoffs and confirm clinical performance.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953729","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":"Refining CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) Diagnosis: Impact of CFTR2 Variant Classifications.","authors":"MacKenzie Wyatt, Alexandra Quinn, Lincoln Shade, Meghan McGarry","doi":"10.3390/ijns11030060","DOIUrl":"10.3390/ijns11030060","url":null,"abstract":"<p><p>An unintended consequence of cystic fibrosis (CF) newborn screening (NBS) is the identification of infants with a positive NBS who do not meet the diagnostic criteria for CF (two CF-causing variants and/or sweat chloride > 60 mmol/L). This indeterminate diagnosis is called cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) or CF screen positive, inconclusive diagnosis (CFSPID). CRMS/CFSPID occurs when it is not clearly known whether <i>CFTR</i> variants are disease-causing. In 2024, the CFTR2 classification of many <i>CFTR</i> variants was changed from unknown significance to either CF-causing variants or variants of varying clinical consequences (VVCCs). We conducted a meta-analysis of CRMS/CFSPID cases from manuscripts to describe how the diagnoses would change using two different variant panels: (1) only CF-causing <i>CFTR</i> variants (Panel_CF-causing) and (2) CF-causing variants and VVCCs (Panel_{CF-causing+VVCCs}). Using the Panel_CF-causing, 8.7% had two CF-causing variants (reclassified as CF), while 91.3% had less than two CF-causing variants (reclassified as Undetected). Using the Panel_{CF-causing+VVCCs}, 51.4% had either two VVCCs or one VVCC with one CF-causing variant detected (reclassified as CRMS/CFSPD), 39.9% had less than two CF-causing variants detected (reclassified as Undetected), and 8.7% had two CF-causing variants (reclassified as CF). In conclusion, using the updated CFTR2 classification of <i>CFTR</i> variants significantly decreases the number of children with CRMS/CFSPID and gives a definitive diagnosis of CF to some children while not detecting as many children who are unlikely to develop CF.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953882","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":"Incidence of Congenital Hypothyroidism Is Increasing in Chile.","authors":"Francisca Grob, Gabriel Cavada, Gabriel Lobo, Susana Valdebenito, Maria Virginia Perez, Gilda Donoso","doi":"10.3390/ijns11030058","DOIUrl":"10.3390/ijns11030058","url":null,"abstract":"<p><p>Congenital hypothyroidism (CH) is a leading preventable cause of neurocognitive impairment. Its incidence appears to be rising in several countries. We analysed 27 years of newborn-screening data (1997-2023) from the largest Chilean screening centre, covering 3,225,216 newborns (51.1% of national births), to characterise temporal trends and potential drivers of CH incidence. Annual CH incidence was modelled with Prais-Winsten regression to correct for first-order autocorrelation; additional models assessed trends in gestational age, sex, biochemical markers, and aetiological subtypes. We identified 1550 CH cases, giving a mean incidence of 4.9 per 10,000 live births and a significant yearly increase of 0.067 per 10,000 (95 % CI 0.037-0.098; <i>p</i> < 0.001). Mild cases (confirmation TSH < 20 mU/L) rose (+0.89 percentage points per year; <i>p</i> = 0.002). The program's recall was low (0.05%). Over time, screening and diagnostic TSH values declined, total and free T4 concentrations rose, gestational age at diagnosis fell, and a shift from thyroid ectopy toward hypoplasia emerged; no regional differences were detected. The sustained increase in CH incidence, alongside falling TSH thresholds and growing detection of in situ glands, suggests enhanced recognition of milder disease. Ongoing surveillance should integrate environmental, iodine-nutrition, and genetic factors to clarify the causes of this trend.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953864","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":"Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. <i>Int. J. Neonatal Screen.</i> 2025, <i>11</i>, 31.","authors":"Clarissa Berardo, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Laura Saielli, Manuela Rizzetto, Davide Biganzoli, Cristina Montrasio, Diana Postorivo, Michela Perrone Donnorso, Elisa Pratiffi, Andrea Meta, Stephana Carelli, Alessandro Amorosi, Sabrina Paci, Graziella Cefalo, Francesca Furlan, Francesca Menni, Serena Gasperini, Viola Crescitelli, Giuseppe Banderali, Gianvincenzo Zuccotti, Luisella Alberti, Cristina Cereda","doi":"10.3390/ijns11030057","DOIUrl":"10.3390/ijns11030057","url":null,"abstract":"<p><p><b>Addition of an author</b> [...].</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372089/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953756","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":"Historical Appreciation of World Health Organization's Public Health Paper-34: Principles and Practice of Screening for Disease, by Max Wilson and Gunnar Jungner.","authors":"Peter C J I Schielen","doi":"10.3390/ijns11030056","DOIUrl":"10.3390/ijns11030056","url":null,"abstract":"<p><p>Biographies of Max Wilson and Gunnar Jungner were published in 2017 and 2020. An in-depth appreciation of the Wilson and Jungner principles, and the publication they were presented in, 'Principles and Practice of Screening for Disease', published as nr. 34 in the Public Health Paper-series of the World Health Organisation (W.H.O), called PHP-34 hereafter, was not published as yet. Here an analysis is given of PHP-34 and the ten screening principles, focusing on three subjects. First, by careful analysis of PHP-34, the literature published in the peer reviewed scientific literature, and other sources, the historical background and origin of the ten principles is determined. Second, the precise composition of PHP-34 is described, as parts of the monograph were derived from other seminal works published between roughly 1950 and 1965. Third, it is determined what the contributions of both authors of the monograph were. Results together are discussed in relation to the time PHP-34 was conceptualized and the importance of PHP-34 and the ten principles in the current era. Results show that in the 15 years preceding the publication of PHP-34, many principles of screening were published by authors in the United States of America, a selection of which ended up in PHP-34. Secondly, about 33% of the 145 pages of PHP-34 are drawn from other publications and studies on screening. Thirdly, the case can be made that the actual writing of PHP-34 was done (almost) entirely by Wilson. Regardless, Wilson and Jungner to this day should be applauded for their work. It is a testimony to the value of PHP-34 that we are still reflecting upon, discussing and seeking to intelligently apply the screening principles almost 60 years after their original publication.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12286092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698481","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":"Neonatology Providers Need Education About Cystic Fibrosis Newborn Screening Algorithms.","authors":"Nilesh Seshadri, Lori Christ, David Munson, Andrew Borowiec, Clement L Ren, Ambika Shenoy","doi":"10.3390/ijns11030054","DOIUrl":"10.3390/ijns11030054","url":null,"abstract":"<p><p>An essential link in the cystic fibrosis (CF) newborn screening (NBS) process is communication of results. While this is described between NBS programs and primary care providers, data of this occurrence is limited with neonatologists. Neonatology providers represent a group caring for critically ill infants with conditions that can impact their ability to complete diagnostic testing after an abnormal NBS. Delays in testing can prolong time to diagnosis. We fielded a survey to assess neonatology provider knowledge and awareness of the Pennsylvania state CF NBS algorithm after an update occurred. Provider demographics, awareness of CF NBS update, and knowledge of the diagnostic testing process were measured. 86% of respondents were unaware of Pennsylvania CF NBS updates. Provider comfort with interpreting CF NBS results varied. 40% of providers identified the next diagnostic testing steps for a critically ill infant following an abnormal CF NBS. Our survey emphasizes the need for educating neonatology providers about CF NBS to improve knowledge and awareness of CF NBS algorithms to facilitate the early diagnosis of affected infants.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12286156/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698483","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":"Implementation of Neonatal Screening Program for Congenital Hypothyroidism in Eastern Morocco.","authors":"Fatima Wahoud, Samia Essadki, Khadija Zirar, Rajae Lamsyah, Wissam Hajjaji, Rim Amrani","doi":"10.3390/ijns11030055","DOIUrl":"10.3390/ijns11030055","url":null,"abstract":"<p><p>Congenital hypothyroidism (CH) is one of the major preventable causes of intellectual disability. This study evaluates the incidence of CH through a newborn screening (NBS) program in eastern Morocco. A descriptive cross-sectional design was used and heel prick blood samples were collected on blotting paper to measure Thyroid-Stimulating Hormone (TSH) using an immunofluorimetric assay. 4062 newborns were screened (51.3% male, 48.7% female). TSH levels significantly varied by age: newborns sampled before 24 h had a higher median TSH (3.7 µU/mL [0.10-28.90]) compared to those sampled at 24 h or more (2.1 µU/mL [0.10-32.30]; <i>p</i> < 0.001). Using age-specific cut-off values, 18 suspected CH cases were recalled (recall rate: 0.44%). Among the 16 cases who completed confirmatory testing, 4 had transient hyperthyrotropinemia (HTT), characterized by mildly abnormal serum TSH and T4 levels that normalized spontaneously after few months without treatment. Three cases were diagnosed with CH confirmed at birth with markedly elevated serum TSH concentrations and significantly reduced T4 levels. Consequently, the birth prevalence of CH confirmed at birth was 1:1354 live births. The median preanalytical delay was 6 days (IQR: 3-12) and the TSH result turnaround was 8 days (IQR: 5-15), potentially affecting timely intervention. This first report from eastern Morocco confirms the relevance of neonatal screening but highlights delays that must be addressed to enhance early diagnosis and management.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12285925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698482","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}