International Journal of Neonatal Screening最新文献_第9页

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders NBSTRN工具推进新生儿筛查研究和支持新生儿筛查利益相关者

International Journal of Neonatal Screening Pub Date : 2023-10-30 DOI: 10.3390/ijns9040063

Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower

{"title":"NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders","authors":"Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower","doi":"10.3390/ijns9040063","DOIUrl":"https://doi.org/10.3390/ijns9040063","url":null,"abstract":"Rapid advances in the screening, diagnosis, and treatment of genetic disorders have increased the number of conditions that can be detected through universal newborn screening (NBS). However, the addition of conditions to the Recommended Uniform Screening Panel (RUSP) and the implementation of nationwide screening has been a slow process taking several years to accomplish for individual conditions. Here, we describe web-based tools and resources developed and implemented by the newborn screening translational research network (NBSTRN) to advance newborn screening research and support NBS stakeholders worldwide. The NBSTRN’s tools include the Longitudinal Pediatric Data Resource (LPDR), the NBS Condition Resource (NBS-CR), the NBS Virtual Repository (NBS-VR), and the Ethical, Legal, and Social Issues (ELSI) Advantage. Research programs, including the Inborn Errors of Metabolism Information System (IBEM-IS), BabySeq, EarlyCheck, and Family Narratives Use Cases, have utilized NBSTRN’s tools and, in turn, contributed research data to further expand and refine these resources. Additionally, we discuss ongoing tool development to facilitate the expansion of genetic disease screening in increasingly diverse populations. In conclusion, NBSTRN’s tools and resources provide a trusted platform to enable NBS stakeholders to advance NBS research and improve clinical care for patients and their families.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136022634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity 全日本用(C16 + C18:1)/C2和C14/C3筛查新生儿肉毒碱棕榈酰基转移酶II缺乏症，显示C12/C0指标具有较高的敏感性和特异性

International Journal of Neonatal Screening Pub Date : 2023-10-27 DOI: 10.3390/ijns9040062

Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada

{"title":"Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity","authors":"Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada","doi":"10.3390/ijns9040062","DOIUrl":"https://doi.org/10.3390/ijns9040062","url":null,"abstract":"Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal neonatal form, (2) a hypoglycemic form, or (3) a myopathic form. The second form can cause sudden infant death and is more common among Japanese people than in other ethnic groups. Our study group had earlier used (C16 + C18:1)/C2 to conduct a pilot newborn screening (NBS) study, and found that the use of C14/C3 for screening yielded lower rates of false positivity; in 2018, as a result, nationwide NBS for CPT II deficiency started. In this study, we evaluated the utility of these ratios in 71 NBS-positive infants and found that the levels of both C14/C3 and (C16 + C18:1)/C2 in patients overlapped greatly with those of infants without the disease. Among the levels of acylcarnitines with various chain lengths (C18 to C2) and levels of free carnitine (C0) as well as their ratios of various patterns, C12/C0 appeared to be a promising index that could reduce false-positive results without missing true-positive cases detected by current indices. Although some cases of the myopathic form may go undetected even with C12/C0, its use will help prevent life-threatening onset of the hypoglycemic form of CPT II deficiency.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136234469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany. 通用新生儿听力筛查计划：德国筛查中心的10年结果和随访。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-10-23 DOI: 10.3390/ijns9040061

Kruthika Thangavelu, Kyriakos Martakis, Silke Feldmann, Bernhard Roth, Peter Herkenrath, Ruth Lang-Roth

{"title":"Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany.","authors":"Kruthika Thangavelu, Kyriakos Martakis, Silke Feldmann, Bernhard Roth, Peter Herkenrath, Ruth Lang-Roth","doi":"10.3390/ijns9040061","DOIUrl":"10.3390/ijns9040061","url":null,"abstract":"Regular reporting of quality control is important in newborn hearing screening, ensuring early diagnosis and intervention. This study reports on a population-based newborn hearing screening program in North-Rhine, Germany and a hospital-based screening at a University Hospital for 2007-2016. The two-staged 'screening' and 'follow-up' program involving TEOAE and AABR recruited newborns through participating birth facilities. Results were sent to the regional tracking center, and the data were analyzed based on recommended benchmarks. The percentage of newborns from the participating birth facilities in the region increased from 1.4% in 2007 to 57.5% in 2016. The 10-year coverage rate for these newborns was 98.7%, the referral rate after a failed two-step screening was 3.4%, and the lost-to-follow-up rate was 1%. At the hospital, >95% of the screened newborns completed screening within 30 days, the 10-year referral rate was 5%, and 64% were referred within 3 months of age. The median time for screening completion was 6 days after birth, for referral it was 74 days after birth, and for diagnosis it was 55 days after birth. Regional-centralized tracking centers with uniform structure are necessary for proper quality control. Obligatory participation of birthing facilities and quality reports may improve performance, but the recommended quality criteria need considerable financial and infrastructural expenditure.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multivariate Independent Component Analysis Identifies Patients in Newborn Screening Equally to Adjusted Reference Ranges. 多变量独立成分分析确定新生儿筛查中的患者与调整后的参考范围相同。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-10-20 DOI: 10.3390/ijns9040060

Štěpán Kouřil, Julie de Sousa, Kamila Fačevicová, Alžběta Gardlo, Christoph Muehlmann, Klaus Nordhausen, David Friedecký, Tomáš Adam

{"title":"Multivariate Independent Component Analysis Identifies Patients in Newborn Screening Equally to Adjusted Reference Ranges.","authors":"Štěpán Kouřil, Julie de Sousa, Kamila Fačevicová, Alžběta Gardlo, Christoph Muehlmann, Klaus Nordhausen, David Friedecký, Tomáš Adam","doi":"10.3390/ijns9040060","DOIUrl":"10.3390/ijns9040060","url":null,"abstract":"Newborn screening (NBS) of inborn errors of metabolism (IEMs) is based on the reference ranges established on a healthy newborn population using quantile statistics of molar concentrations of biomarkers and their ratios. The aim of this paper is to investigate whether multivariate independent component analysis (ICA) is a useful tool for the analysis of NBS data, and also to address the structure of the calculated ICA scores. NBS data were obtained from a routine NBS program performed between 2013 and 2022. ICA was tested on 10,213/150 free-diseased controls and 77/20 patients (9/3 different IEMs) in the discovery/validation phases, respectively. The same model computed during the discovery phase was used in the validation phase to confirm its validity. The plots of ICA scores were constructed, and the results were evaluated based on 5sd levels. Patient samples from 7/3 different diseases were clearly identified as 5sd-outlying from control groups in both phases of the study. Two IEMs containing only one patient each were separated at the 3sd level in the discovery phase. Moreover, in one latent variable, the effect of neonatal birth weight was evident. The results strongly suggest that ICA, together with an interpretation derived from values of the \"average member of the score structure\", is generally applicable and has the potential to be included in the decision process in the NBS program.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2023-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism. 墨西哥先天性中间代谢错误患者队列中33年来的差异和未满足的新生儿筛查需求综述。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-10-19 DOI: 10.3390/ijns9040059

Isabel Ibarra-González, Cynthia Fernández-Lainez, Marcela Vela-Amieva, Sara Guillén-López, Leticia Belmont-Martínez, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Nidia Alejandra Guillén-Zaragoza

{"title":"A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism.","authors":"Isabel Ibarra-González, Cynthia Fernández-Lainez, Marcela Vela-Amieva, Sara Guillén-López, Leticia Belmont-Martínez, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Nidia Alejandra Guillén-Zaragoza","doi":"10.3390/ijns9040059","DOIUrl":"10.3390/ijns9040059","url":null,"abstract":"Advances in an early diagnosis by expanded newborn screening (NBS) have been achieved mainly in developed countries, while populations of middle- and low-income countries have poor access, leading to disparities. Expanded NBS in Mexico is not mandatory. Herein, we present an overview of the differences and unmet NBS needs of a group of Mexican patients with inborn errors of intermediary metabolism (IEiM), emphasizing the odyssey experienced to reach a diagnosis. We conducted a retrospective observational study of a historical cohort of patients with IEiM from a national reference center. A total of 924 patients with IEiM were included. Although 72.5% of the diseases identified are detectable by expanded NBS, only 35.4% of the patients were screened. The mortality in the unscreened group was almost two-fold higher than that in the screened group. Patients experienced a median diagnostic delay of 4 months, which is unacceptably long considering that to prevent disability and death, these disorders must be treated in the first days of life. Patients had to travel long distances to our reference center, contributing to their unacceptable diagnostic odyssey. This study highlights the urgent need to have an updated, expanded NBS program with adequate follow up in Mexico and promote the creation of regional medical care centers. We also provide compelling evidence that could prove valuable to decision makers overseeing public health initiatives for individuals impacted by IEiM from middle- and low-income countries.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2023-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation. 鉴定经典21-羟化酶缺乏症的最佳实践应包括21-脱氧皮质醇分析和适当的异构体类固醇分离。

IF 4

International Journal of Neonatal Screening Pub Date : 2023-10-16 DOI: 10.3390/ijns9040058

Ronda F Greaves, Monish Kumar, Nazha Mawad, Alberto Francescon, Chris Le, Michele O'Connell, James Chi, James Pitt

{"title":"Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation.","authors":"Ronda F Greaves, Monish Kumar, Nazha Mawad, Alberto Francescon, Chris Le, Michele O'Connell, James Chi, James Pitt","doi":"10.3390/ijns9040058","DOIUrl":"10.3390/ijns9040058","url":null,"abstract":"There are mixed reports on the inclusion and use of 21 deoxycortisol (21DF) as the primary decision marker for classical 21-hydroxylase deficiency. We hypothesize that this may be due to insufficient recognition of the presence and chromatographic separation of isomeric steroids. The aim of this study was to determine the comparative utility of 21DF for screening and diagnosis of CAH due to classical 21-hydroxylase deficiency using a second-tier LC-MS/MS method that included the separation of isomeric steroids to 17OHP and 21DF. For each baby sample, one 3.2 mm dried blood spot was eluted in a methanolic solution containing isotopically matched internal standards. Data were interrogated by univariate and receiver operator characteristic analysis. Steroid profile results were generated for 924 non-CAH baby samples (median gestational age 37 weeks, range 22 to 43 weeks) and 17 babies with 21-hydroxylase deficiency. The ROC curves demonstrated 21DF to have the best sensitivity and specificity for the diagnosis of classical 21-hydroxylase deficiency with an AUC = 1.0. The heatmap showed the very strong correlation (r = 0.83) between 17OHP and 21DF. Our data support 21DF as a robust marker for CAH due to 21-hydroxylase deficiency. We recommend that 21DF be incorporated into routine newborn screening panels as part of the second-tier LC-MS/MS method, follow-up plasma steroid panels, and external quality assurance material.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":4.0,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594498/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals. 保加利亚扩大新生儿普遍筛查的前景：对医疗专业人员的调查。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-10-11 DOI: 10.3390/ijns9040057

Georgi Iskrov, Vyara Angelova, Boyan Bochev, Vaska Valchinova, Teodora Gencheva, Desislava Dzhuleva, Julian Dichev, Tanya Nedkova, Mariya Palkova, Anelia Tyutyukova, Maria Hristova, Eleonora Hristova-Atanasova, Rumen Stefanov

{"title":"Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals.","authors":"Georgi Iskrov, Vyara Angelova, Boyan Bochev, Vaska Valchinova, Teodora Gencheva, Desislava Dzhuleva, Julian Dichev, Tanya Nedkova, Mariya Palkova, Anelia Tyutyukova, Maria Hristova, Eleonora Hristova-Atanasova, Rumen Stefanov","doi":"10.3390/ijns9040057","DOIUrl":"10.3390/ijns9040057","url":null,"abstract":"Determining the scope of a newborn screening program is a challenging health policy issue. Our study aimed to explore the attitudes of specialists in pediatrics, neonatology, medical genetics, and biochemistry regarding the prospects for expanding the panel of diseases for universal newborn screening in Bulgaria. We conducted an online survey in March-May 2022. The questionnaire listed 35 disorders that could potentially be included in the Bulgarian panel for universal newborn screening. If endorsing a specific condition, participants had to justify their position by judging its performance against the ten principles of Wilson and Jungner. We found a high degree of knowledge about the current universal newborn screening program in Bulgaria. An overwhelming majority (97.4%) supported the expansion of the panel to include more conditions. Four disorders obtained more than 50% approval for inclusion: cystic fibrosis (87.0%), thalassemia (72.7%), spinal muscular atrophy (65.6%), and classical galactosemia (59.1%). The perception of the condition as an important health problem was the most significant factor in this support. The costs of diagnosis and treatment appeared to be the main source of concern. We recommend country-specific economic evaluations and research on the views of other stakeholders, including the government, payers, and patient organizations, to better understand and manage the complex nature of newborn screening policymaking.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2023-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening. 一项德尔菲调查研究，旨在制定遗传性代谢障碍的可治疗性声明，以决定新生儿筛查的资格。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-10-11 DOI: 10.3390/ijns9040056

Abigail Veldman, M B Gea Kiewiet, Dineke Westra, Annet M Bosch, Marion M G Brands, René I F M de Coo, Terry G J Derks, Sabine A Fuchs, Johanna M P van den Hout, Hidde H Huidekoper, Leo A J Kluijtmans, Klaas Koop, Charlotte M A Lubout, Margaretha F Mulder, Bianca Panis, M Estela Rubio-Gozalbo, Monique G de Sain-van der Velden, Jaqueline Schaefers, Andrea B Schreuder, Gepke Visser, Ron A Wevers, Frits A Wijburg, M Rebecca Heiner-Fokkema, Francjan J van Spronsen

{"title":"A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.","authors":"Abigail Veldman, M B Gea Kiewiet, Dineke Westra, Annet M Bosch, Marion M G Brands, René I F M de Coo, Terry G J Derks, Sabine A Fuchs, Johanna M P van den Hout, Hidde H Huidekoper, Leo A J Kluijtmans, Klaas Koop, Charlotte M A Lubout, Margaretha F Mulder, Bianca Panis, M Estela Rubio-Gozalbo, Monique G de Sain-van der Velden, Jaqueline Schaefers, Andrea B Schreuder, Gepke Visser, Ron A Wevers, Frits A Wijburg, M Rebecca Heiner-Fokkema, Francjan J van Spronsen","doi":"10.3390/ijns9040056","DOIUrl":"10.3390/ijns9040056","url":null,"abstract":"The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods for newborn screening (NBS), more inherited metabolic diseases (IMDs) can technically be included, and a revision of the criteria was attempted. This study aimed to formulate statements and investigate whether those statements could elaborate on the criterion of treatability for IMDs to decide on eligibility for NBS. An online Delphi study was started among a panel of Dutch IMD experts (EPs). EPs evaluated, amended, and approved statements on treatability that were subsequently applied to 10 IMDs. After two rounds of Delphi, consensus was reached on 10 statements. Application of these statements selected 5 out of 10 IMDs proposed for this study as eligible for NBS, including 3 IMDs in the current Dutch NBS. The statement: 'The expected benefit/burden ratio of early treatment is positive and results in a significant health outcome' contributed most to decision-making. Our Delphi study resulted in 10 statements that can help to decide on eligibility for inclusion in NBS based on treatability, also showing that other criteria could be handled in a comparable way. Validation of the statements is required before these can be applied as guidance to authorities.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2023-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain). 穆尔西亚新生儿镰状细胞病筛查项目（西班牙）。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-10-10 DOI: 10.3390/ijns9040055

María Sánchez-Villalobos, Eulalia Campos Baños, María Jesús Juan Fita, José María Egea Mellado, Inmaculada Gonzalez Gallego, Asunción Beltrán Videla, Mercedes Berenguer Piqueras, Mar Bermúdez Cortés, José María Moraleda Jiménez, Encarna Guillen Navarro, Eduardo Salido Fierrez, Ana B Pérez-Oliva

{"title":"A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain).","authors":"María Sánchez-Villalobos, Eulalia Campos Baños, María Jesús Juan Fita, José María Egea Mellado, Inmaculada Gonzalez Gallego, Asunción Beltrán Videla, Mercedes Berenguer Piqueras, Mar Bermúdez Cortés, José María Moraleda Jiménez, Encarna Guillen Navarro, Eduardo Salido Fierrez, Ana B Pérez-Oliva","doi":"10.3390/ijns9040055","DOIUrl":"10.3390/ijns9040055","url":null,"abstract":"Sickle cell disease (SCD) is an inherited autosomal recessive hemoglobin disorder caused by the presence of hemoglobin S, a mutant abnormal hemoglobin caused by a nucleotide change in codon 6 of the β-globin chain gene. SCD involves a chronic inflammatory state, exacerbated during vaso-occlusive crises, which leads to end-organ damage that occurs throughout the lifespan. SCD is associated with premature mortality in the first years of life. The process of sickling provokes asplenia in the first years of life with an increased risk of infection by encapsulated germs. These complications can be life-threatening and require early diagnosis and management. The most important interventions recommend an early diagnosis of SCD to ensure that affected newborns receive immediate care to reduce mortality and morbidity. The newborn screening program in the region of Murcia for SCD began in March 2016. We aimed to determine the incidence of sickle cell anemia and other structural hemoglobinopathies in the neonatal population of the region of Murcia, an area of high migratory stress, and to systematically assess the benefit of newborn screening for SCD, leading to earlier treatment, as well as to offer genetic counseling to all carriers. The prevalence of SCD in our region is similar to others in Spain, except for Catalonia and Madrid. The newborns with confirmed diagnoses of SCD received early attention, and all the carriers received genetic counseling.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2023-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49690440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

2023 APHL/ISNS Newborn Screening Symposium. 2023年APHL/ISNS新生儿筛查研讨会。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-10-09 DOI: 10.3390/ijns9040054

Richard S Olney, James R Bonham, Peter C J I Schielen, Dara Slavin, Jelili Ojodu

引用次数: 0