International Journal of Neonatal Screening最新文献

{"title":"Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children's Rights.","authors":"Sophie Ter Braak, Mette Nyegaard, Christian Munch Hagen, Marie Bækvad-Hansen, Madara Auzenbaha, François Boemer, James R Bonham, Patricia Borde, Ian Brincat, David Cheillan, Vera Frankova, Leifur Franzson, Ksenija Fumić, Urh Groselj, Tom L G M van den Kerkhof, Riikka Kurkijärvi, Giancarlo la Marca, Tatjana Milenković, Olve Moldestad, Vyacheslav Mitkin, Florentina Moldovanu, Marios Vogazianos, Jürgen G Okun, Lene Sörensen, Gulnara Svyatova, Ildikó Szatmári, Maja Raičević, Karit Reinson, Trine Tangeraas, Alma Toromanović, Laura Vilarinho, Svetlana Vorslova, Raquel Yahyaoui, Maximillian Zeyda, Dianne Webster, Peter C J I Schielen","doi":"10.3390/ijns12030064","DOIUrl":"10.3390/ijns12030064","url":null,"abstract":"<p><p>Neonatal screening using Dried Blood Spot (DBS) cards is an important and successful public health facility in Europe, enabling early detection of congenital disorders for early treatment and prevention of overt disease. Biobanks of stored DBS cards offer significant potential for biomedical research. Biobanking and secondary use of DBS cards also raise ethical and legal issues, particularly concerning the rights of parents and children. This study provides a comprehensive overview of legislation and legal practices governing DBS biobanking across 29 European countries, based on a survey conducted in collaboration with the International Society for Neonatal Screening. Findings reveal a highly heterogeneous landscape: 15 countries have national legislation, five have regional guidelines, and nine lack formal regulations. Only four countries require explicit parental consent for DBS storage, with considerable variation in approval processes for research use. A harmonization of practices, with the European General Data Protection Regulation (GDPR) as a basis for future regulation, supplemented by clearer guidance on 'public interest' and robust safeguards for individual rights may lead to more transparent and consistent governance, which is essential to balance scientific progress with the protection of parental and children's rights in DBS-based research across Europe.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828493","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":"Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong.","authors":"Chloe Miu Mak, Hoi Ying Wu, Ariel Ying Wong, Felicite Enyu Song, Toby Chun Hei Chan, Cheuk Wing Fung, Suet Na Wong, Edgar Wai Lok Hau, Matthew Chun Wing Yeung","doi":"10.3390/ijns12030063","DOIUrl":"10.3390/ijns12030063","url":null,"abstract":"<p><p>X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder and is associated with serious clinical consequences. While newborn screening (NBS) could facilitate early identification and timely intervention, its implementation for X-ALD remains controversial due to ethical concerns arising from its X-linked recessive inheritance pattern, particularly regarding female newborns. This study aims to explore the perspectives of healthcare professionals and the general public on NBS for X-ALD in Hong Kong. An online survey with 20 quantitative questions on ethical considerations was conducted from May to August 2024. Among a total of 259 responses, most respondents (99.2%) supported NBS for their male newborns, primarily because it facilitates early diagnosis and effective management. The majority of the respondents were in favor of offering NBS to female newborns, citing potential benefits for the management of adult-onset disease, enhanced family planning and support, and opportunities for extended family screening. However, some respondents expressed concerns regarding (1) psychological stress and anxiety from uncertain disease onset and frequent monitoring; (2) potential genetic discrimination and adverse impact on insurance premiums/coverage; (3) affordability and accessibility of expensive treatments, such as gene therapy; and (4) ethical issues regarding children's \"right to an open future\", particularly for late-onset female X-ALD. To address these concerns while respecting family autonomy, we propose an opt-in system with clear, balanced information for parents, combined with a three-tier screening algorithm. In summary, while inclusion of X-ALD in Hong Kong's NBS program receives strong community support, targeted measures are needed to mitigate the identified ethical and practical barriers.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510819/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828542","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":"Experience with Implementation of Pulse Oximetry Screening for Critical Congenital Heart Disease in a Low-Middle-Income Country.","authors":"Abena Adaboh, Daem Celestin, Alex Agyekum, Nana Serwaa Osei, Araba Mensah, Sadath Sayeed, Nana-Akyaa Yao","doi":"10.3390/ijns12030062","DOIUrl":"10.3390/ijns12030062","url":null,"abstract":"<p><p>The adoption of pulse oximetry screening (POS) in low- and middle-income countries remains limited. We describe the development, implementation, and evaluation of a POS program at two of the leading tertiary centers in Accra, Ghana, based on a modified American Academy of Pediatrics protocol. Screening was conducted by trained research assistants. Operational experiences of research assistants were evaluated using a mixed-methods approach, including post-implementation surveys (<i>n</i> = 14) and focus group discussions (<i>n</i> = 10). Although participants felt comfortable with the level of instruction, they recommended incorporating simulation exercises to strengthen management of failed screens. Key challenges included difficulty locating newborns due to fragmented wards and paper-based records, equipment durability issues, and complex coordination for echocardiography following failed screens. Early discharge practices and high neonatal intensive care unit admissions reduced screening coverage among high-risk infants. Despite limited referral systems and surgical capacity, the POS pilot increased provider awareness, improved diagnostic clarity and demonstrated feasibility. Sustainable expansion will require more efficient referral networks as well as investment in pediatric cardiology training and cardiac surgical infrastructure.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13511312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828481","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 Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China.","authors":"Qiongfang Yao, Shuting Huang, Fei Kong, Min Wu, Xiaolong Qiu, Peiran Zhao, Yinglin Zeng, Jinying Luo, Jinfu Zhou, Liangpu Xu","doi":"10.3390/ijns12030061","DOIUrl":"10.3390/ijns12030061","url":null,"abstract":"<p><p>Amino acid metabolic disorders (AAMs) are a group of inherited metabolic diseases caused by defects in enzymes or transporters involved in amino acid metabolism. This systematic review and meta-analysis aimed to evaluate the incidence, disease spectrum, and regional distribution of AAMs in China. A comprehensive search of PubMed, Embase, Web of Science, and major Chinese databases identified studies published between January 2002 and December 2025. After rigorous screening and quality assessment, 65 studies were included, encompassing 16,757,850 newborns and 2928 confirmed AAM cases. The most prevalent subtypes included hyperphenylalaninemia (HPA), hypermethioninemia (MET), citrin deficiency (CD), citrullinemia type 1 (CTLN1), maple syrup urine disease (MSUD), ornithine transcarbamylase deficiency (OTCD), and tyrosinemia (HT). The pooled incidence of AAMs was estimated at 184.0 (95% confidence interval 155.0-218.0) per million newborns. Significant regional differences were observed in the overall incidence of AAMs, with a higher incidence in northern China than southern China (287.0 vs. 126.0 per million, <i>p</i> < 0.0001). This difference was largely attributable to the substantially higher prevalence of HPA in northern China, whereas other major AAM subtypes showed no significant north-south differences. In contrast, no significant north-south differences were identified for other major subtypes. Additionally, the proportion of tetrahydrobiopterin deficiency (BH4D) among HPA cases was significantly higher in southern China (<i>p</i> < 0.001). These findings provide comprehensive epidemiological evidence on AAMs in China and highlight the importance of region-specific newborn screening strategies.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828536","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: Progress and Perspectives.","authors":"Marci K Sontag, Susanna A McColley","doi":"10.3390/ijns12030060","DOIUrl":"10.3390/ijns12030060","url":null,"abstract":"<p><p>Newborn screening (NBS) for cystic fibrosis (CF) was first implemented almost 50 years ago, and many improvements have been made to the initial algorithms, educational approaches, and available therapies [...].</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13511741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828448","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":"Homozygosity for a Clinically Significant <i>GALC</i> Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling.","authors":"Daniel R Schecter, Colleen Donnelly, Amy White, Hillary Raynes, Gordon Heller, Deepa Rajan, Carlos A Saavedra-Matiz, Joseph Orsini, Jaap-Jan Boelens, Dietrich Matern, Jaya Ganesh","doi":"10.3390/ijns12030059","DOIUrl":"10.3390/ijns12030059","url":null,"abstract":"<p><p>Krabbe disease is an autosomal recessive leukodystrophy caused by a deficiency of the lysosomal enzyme galactosylceramidase (GALC), responsible for the degradation of galactolipids, resulting in toxic psychosine accumulation and progressive demyelination of the central and peripheral nervous systems. Newborn screening (NBS) has increased recognition of later-onset Krabbe disease, although interpretation of complex <i>GALC</i> genotypes remains challenging, particularly in the presence of \"pseudodeficiency\" and modifier alleles. In this case report, we describe a child with late-infantile Krabbe disease identified through NBS with markedly reduced GALC activity and a homozygous <i>GALC</i> haplotype containing c.956A>G (p.Tyr319Cys; Y319C) and c.1685T>C (p.Ile562Thr; I562T), in addition to other benign variants. Retrospective analysis of the newborn screening specimen demonstrated mild psychosine elevation. Despite preserved neurodevelopment, longitudinal surveillance demonstrated progressive cerebral white matter abnormalities by 3 years and 9 months of age and psychosine elevation in erythrocytes (14 pmol/g Hb; controls < 5), prompting umbilical cord blood transplantation (UCBT). Following transplantation, GALC enzyme activity normalized, psychosine levels decreased, and serial neuroimaging demonstrated radiographic stability without neurologic regression at last follow-up (9 years old). This case expands the phenotypic spectrum associated with homozygosity for the p.Tyr319Cys variant and highlights the role of p.Ile562Thr in amplifying the pathogenic potential when in cis with p.Tyr319Cys. This <i>GALC</i> haplotype illustrates how \"pseudodeficiency\" and modifier alleles may collectively influence biochemical, radiologic, and clinical disease expression. These findings emphasize the importance of integrating genotype, psychosine, enzyme activity, and longitudinal neuroimaging when evaluating infants with NBS results positive for Krabbe disease.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828525","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":"Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of <i>SLC25A13</i> Gene Mutations in Hefei, China.","authors":"Qingqing Ma, Junxing Chen, Yong Huang, Yan Wang, Wangsheng Song, Hongyu Xu, Yuhui Wan, Haili Hu","doi":"10.3390/ijns12030058","DOIUrl":"10.3390/ijns12030058","url":null,"abstract":"<p><p>Citrin deficiency (CD) is an autosomal recessive disorder and represents one of the urea cycle disorders. This study aims to analyze the detection rate, clinical features, and genetic mutation characteristics of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in the Hefei region of China. We conducted NICCD screening using tandem mass spectrometry (MS/MS) for infants born in Hefei City between January 2016 and December 2025. Screen-positive cases were subjected to genetic testing via next-generation sequencing (NGS), with subsequent validation by Sanger sequencing. Clinical manifestations, biochemical parameters, and genetic mutation profiles of confirmed cases were systematically analyzed. A total of 924,676 newborns underwent screening, identifying 17 cases of NICCD, yielding a detection rate of 1/54,393, with two false-negative cases identified. The most prevalent mutation site is c.852_855del (p.M285Pfs*2). Following diagnosis, health education, dietary guidance, and symptomatic treatment were administered, resulting in favorable outcomes in the majority of cases. However, one infant exhibited significant growth retardation despite early therapeutic intervention that normalized biochemical parameters. Furthermore, an infant was found to have gallstones at birth and subsequently diagnosed with a liver hemangioma at one year of age. Some patients may experience missed screenings due to delayed elevations in citrulline levels. Therefore, even for newborns with negative screening results, timely assessments of liver function, MS/MS, and genetic testing are recommended for infants experiencing prolonged jaundice. This approach enables early identification and intervention. The combination of MS/MS with genetic screening may serve as a reliable strategy to reduce false-negative results in NICCD screening.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828470","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":"Communicating a Congenital Cytomegalovirus Diagnosis: Parent Experiences and a Clinical Framework.","authors":"Megan Honor Pesch, Laura C Taylor, Sean P McKenzie, Gail Demmler-Harrison","doi":"10.3390/ijns12030057","DOIUrl":"10.3390/ijns12030057","url":null,"abstract":"<p><p>Congenital cytomegalovirus (cCMV) is characterized by highly variable outcomes; how diagnostic information is communicated to families is critical, yet parent experiences of communication following a cCMV diagnosis are not well described. The objective was to examine parent experiences of communication following a cCMV diagnosis and identify opportunities to improve communication in the setting of clinical uncertainty. The method used was semi-structured interviews with 41 mothers of children with cCMV explored communication of diagnostic results, interactions with healthcare providers, and perceptions of information clarity, timing, and adequacy. Transcripts were analyzed using thematic analysis. Participants described variability in diagnostic communication, including differences in timing, modality, and content. Some received in-person counseling, whereas others learned of the diagnosis through phone calls, written communication, or electronic health portals prior to provider contact. Many reported limited explanation, insufficient anticipatory guidance, and inconsistent or incomplete information across providers. These communication gaps contributed to confusion, increased reliance on external information sources, and diminished trust in the healthcare system. Participants emphasized the importance of clear, compassionate communication that acknowledges uncertainty while providing actionable guidance. Communication surrounding cCMV diagnosis is inconsistent and often does not meet family needs. Diagnostic disclosure should function as a clinical intervention requiring clear, patient-centered, longitudinal communication to support families navigating uncertainty.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13510796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828544","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":"Improving Severe Combined Immunodeficiency and Cystic Fibrosis Newborn Screening by Replacing Current Tests with First-Tier Targeted Gene Sequencing.","authors":"Bennett O V Shum, Carel Pretorius, Ilya Henner, Emre Basar, Urs Wilgen, Glenn Bennett, Jacobus P J Ungerer","doi":"10.3390/ijns12030056","DOIUrl":"10.3390/ijns12030056","url":null,"abstract":"<p><p>Newborn screening benefits children with rare diseases by enabling early detection and intervention, which improves health outcomes. False-positive results are one harm of screening, with infants subject to further testing to resolve a positive screen and parents susceptible to psychosocial distress while awaiting the results. Newborn bloodspot screening (NBS) for severe combined immunodeficiency (SCID) using quantitative polymerase chain reaction (qPCR) and cystic fibrosis (CF) screening using immunoreactive trypsinogen (IRT) have high false-positive rates, with more than five infants screening positive and unaffected, for each child diagnosed. We used first-tier targeted gene sequencing (TGS) to prospectively screen 3025 newborns for CF, SCID and spinal muscular atrophy (SMA) and compared the results to current screening protocols using multiplex qPCR and IRT. TGS identified one infant with CF, missed by the IRT assay, and detected an infant with SMA, who screened positive with multiplex qPCR. TGS had zero false-positive results for SCID, CF and SMA. By contrast, multiplex qPCR and IRT screening protocols had approximately nine false positives for each child diagnosed with CF (positive predictive value, PPV 10.00%) and SCID (PPV 10.13%). Replacing current SCID and CF screening protocols with TGS would reduce NBS false positives and may result in a higher sensitivity for CF. TGS sensitivity and specificity would be comparable to qPCR for SMA. A larger trial is required to determine TGS sensitivity and cost-effectiveness.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13511433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828511","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":"The Dual Role of Neonatal Pulse Oximetry Screening and Fetal Echocardiography in Congenital Heart Disease Detection Around the World.","authors":"Anita Krishnan, Carolyn Sommer, Chinenyenwa Mpamaugo, Sonia Voleti Chivukula, Lisa A Hom, Gerard R Martin, Mary T Donofrio","doi":"10.3390/ijns12030055","DOIUrl":"10.3390/ijns12030055","url":null,"abstract":"<p><p>Congenital heart disease is the most common birth defect worldwide. Perinatal detection, either in utero or prior to hospital discharge is important for planning delivery, ordering adjunct testing, and planning for surgical or medical care. In countries with access to ultrasound screening, prenatal detection is highly accurate though with variable sensitivity and specificity around the world. Pulse oximetry screening, in some cases coupled with murmur auscultation in the nursery can also reach very high degrees of sensitivity for critical congenital heart disease. Use of the modalities per guidelines and recommendations is an important aspect of decreasing infant mortality and morbidity worldwide.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"12 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13397836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148578475","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}