International Journal of Neonatal Screening最新文献_第8页

Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots. 新生儿血斑中促甲状腺激素、苯丙氨酸和17α-羟孕酮筛查的ISNS参考制剂

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International Journal of Neonatal Screening Pub Date : 2025-02-09 DOI: 10.3390/ijns11010013

Peter C J I Schielen, Dianne Webster, J Gerard Loeber, James R Bonham

引用次数: 0

Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Hemoglobinopathies for Confirmation of Alpha-Thalassemia Trait. 在新生儿血红蛋白病筛查中加入分子基因检测以确认α -地中海贫血特征的临床应用。

IF 4

International Journal of Neonatal Screening Pub Date : 2025-02-07 DOI: 10.3390/ijns11010012

Lisa M Shook, Deidra Haygood, Charles T Quinn

{"title":"Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Hemoglobinopathies for Confirmation of Alpha-Thalassemia Trait.","authors":"Lisa M Shook, Deidra Haygood, Charles T Quinn","doi":"10.3390/ijns11010012","DOIUrl":"10.3390/ijns11010012","url":null,"abstract":"Hemoglobinopathies are commonly detected by newborn screening (NBS). One of the most difficult to accurately diagnose is alpha-thalassemia, which is indicated by the presence of hemoglobin (Hb) Barts on NBS. This mixed methods study incorporated (1) an implementation and quality improvement project to demonstrate the clinical utility of genetic testing added to standard procedures for likely alpha-thalassemia trait and (2) a qualitative study to determine the related educational needs of primary care providers (PCPs). During a two-year period, we attempted to perform alpha-globin genetic testing for all newborns with an abnormal NBS result (an \"FA + Barts\" pattern). We conducted semi-structured interviews with seven PCPs for thematic abstraction. In sixty neonates with presumed Hb Barts on initial NBS who had genetic testing, three (5%) did not have alpha-thalassemia. The remaining 57 (95%) had an alpha-thalassemia trait genotype. Non-deletion alpha-thalassemia occurred in 5%. Eight (13%) had genotypes that substantially altered genetic counseling for the individual and family members. Race and ethnicity were poor surrogates for genotype. PCPs expressed a willingness to participate in NBS follow up but had little specific knowledge about alpha-thalassemia. The addition of genetic testing for likely alpha-thalassemia trait to NBS had very high clinical utility, supporting its use in standard clinical care. Whenever possible, education and genetic counseling should not be provided based on the detection of possible Hb Barts alone without subsequent specific genetic verification. Educational and outreach programs for both PCPs and families about the importance of testing and trait counseling are needed for ongoing improvement.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467919","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

Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study. 安达卢西亚新生儿脊髓性肌萎缩症和严重T细胞和b细胞淋巴细胞减少症筛查：一项前瞻性研究。

IF 4

International Journal of Neonatal Screening Pub Date : 2025-01-30 DOI: 10.3390/ijns11010011

Beatriz De Felipe, Carmen Delgado-Pecellin, Mercedes Lopez-Lobato, Peter Olbrich, Pilar Blanco-Lobo, Josefina Marquez-Fernandez, Carmen Salamanca, Beatriz Mendoza, Rocio Castro-Serrano, Cristina Duque, Mariana Moreno-Prieto, Marcos Madruga-Garrido, Jose M Lucena, Raquel M Fernandez, Maria Ruiz-Camacho, Alberto Varona, Olaf Neth

{"title":"Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.","authors":"Beatriz De Felipe, Carmen Delgado-Pecellin, Mercedes Lopez-Lobato, Peter Olbrich, Pilar Blanco-Lobo, Josefina Marquez-Fernandez, Carmen Salamanca, Beatriz Mendoza, Rocio Castro-Serrano, Cristina Duque, Mariana Moreno-Prieto, Marcos Madruga-Garrido, Jose M Lucena, Raquel M Fernandez, Maria Ruiz-Camacho, Alberto Varona, Olaf Neth","doi":"10.3390/ijns11010011","DOIUrl":"10.3390/ijns11010011","url":null,"abstract":"Spinal muscular atrophy (SMA) and severe T- and/or B-cell lymphopenias (STBCL) in the form of severe combined immunodeficiencies (SCID) or X-linked agammaglobulinemia (XLA) are rare but potentially fatal pathologies. In January 2021, we initiated the first pilot study in Spain to evaluate the efficacy of a very early detection technique for SMA and SCID. RT-PCR was performed on prospectively collected dried blood spots (DBSs) from newborns in Western Andalusia (Spain). Internal and external controls (SCID, XLA and SMA) were included. The determination of SMA was relative (positive/negative) and that of TRECs and KRECs was quantitative (copies/punch). A total of 14.035 prospective samples were analysed. All controls were correctly identified while no cases of SMA or SCID/XLA were prospectively identified. DBS analysis of infants with suspected SMA or STBCL that presented to our centre showed pathological values in two cases each for SMA and SCID and one for XLA, all of them being subsequently confirmed genetically. In this prospective pilot study, no infants with SMA or STBCL were detected; however, the technique applied here was shown to be reliable and fast, further supporting the benefits and need to include SMA and SCID in national newborn screening (NBS) programs, as it will allow early supportive and curative therapy.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467920","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

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population. 新生儿镰状细胞病筛查：葡萄牙人口试点研究结果

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International Journal of Neonatal Screening Pub Date : 2025-01-27 DOI: 10.3390/ijns11010010

Diogo Rodrigues, Ana Marcão, Lurdes Lopes, Ana Ventura, Teresa Faria, Anabela Ferrão, Carolina Gonçalves, Paula Kjöllerström, Ana Castro, Sofia Fraga, Marta Almeida, Tabita Maia, João Gomes, Ana Lachado, Isabel Guerra, Fátima Ferreira, Fernanda Trigo, Celeste Bento, Laura Vilarinho

{"title":"Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.","authors":"Diogo Rodrigues, Ana Marcão, Lurdes Lopes, Ana Ventura, Teresa Faria, Anabela Ferrão, Carolina Gonçalves, Paula Kjöllerström, Ana Castro, Sofia Fraga, Marta Almeida, Tabita Maia, João Gomes, Ana Lachado, Isabel Guerra, Fátima Ferreira, Fernanda Trigo, Celeste Bento, Laura Vilarinho","doi":"10.3390/ijns11010010","DOIUrl":"10.3390/ijns11010010","url":null,"abstract":"The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performed between May 2021 and December 2023, with phase I, including 24,130 newborns, in the Lisbon and Setubal districts and phase II, including 164,087 newborns, in the whole country. DBS samples were analyzed through capillary electrophoresis. In phase I, a high birth incidence of sickle cell disease was found (1:928 NBs), resulting from the identification of 24 HbSS and 2 HbSC patients. This birth incidence decreased but remained significant when the pilot study for sickle cell disease newborn screening was expanded to a national level, with the identification of 67 sickle cell disease patients (59 HbSS and 8 HbSC), revealing a birth incidence of 1:2449 NBs. These data suggest that this condition is becoming increasingly relevant in Portugal, thus reflecting a general European trend, where sickle cell disease is already recognized as a public health problem. Therefore, it highlights the importance of its integration into the Portuguese National Newborn Screening Program panel in January 2024, thus allowing the early identification and clinical follow-up of these patients.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843821/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467922","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

Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders. 线粒体三功能蛋白/长链3-羟基酰基辅酶a脱氢酶缺乏致4日龄新生儿猝死及脂肪酸氧化障碍新生儿早期死亡的系统文献综述

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International Journal of Neonatal Screening Pub Date : 2025-01-26 DOI: 10.3390/ijns11010009

Ana Drole Torkar, Ana Klinc, Ziga Iztok Remec, Branislava Rankovic, Klara Bartolj, Sara Bertok, Sara Colja, Vanja Cuk, Marusa Debeljak, Eva Kozjek, Barbka Repic Lampret, Matej Mlinaric, Tinka Mohar Hajnsek, Daša Perko, Katarina Stajer, Tine Tesovnik, Domen Trampuz, Blanka Ulaga, Jernej Kovac, Tadej Battelino, Mojca Zerjav Tansek, Urh Groselj

{"title":"Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.","authors":"Ana Drole Torkar, Ana Klinc, Ziga Iztok Remec, Branislava Rankovic, Klara Bartolj, Sara Bertok, Sara Colja, Vanja Cuk, Marusa Debeljak, Eva Kozjek, Barbka Repic Lampret, Matej Mlinaric, Tinka Mohar Hajnsek, Daša Perko, Katarina Stajer, Tine Tesovnik, Domen Trampuz, Blanka Ulaga, Jernej Kovac, Tadej Battelino, Mojca Zerjav Tansek, Urh Groselj","doi":"10.3390/ijns11010009","DOIUrl":"10.3390/ijns11010009","url":null,"abstract":"Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal presentation of MTPD/LCHADD in a term newborn. The girl was born after an uneventful pregnancy and delivery, and she was discharged home at the age of 3 days, appearing well. At the age of 4 days, she was found without signs of life. Resuscitation was not successful. The NBS test performed using tandem mass spectrometry (MS/MS) showed a positive screen for MTPD/LCHADD. Genetic analysis performed on a dried blood spot (DBS) sample identified two heterozygous variants in the HADHA gene: a nucleotide duplication introducing a premature termination codon (p.Arg205Ter) and a nucleotide substitution (p.Glu510Gln). Post-mortem studies showed massive macro-vesicular fat accumulation in the liver and, to a smaller extent, in the heart, consistent with MTPD/LCHADD. A neonatal acute cardiac presentation resulting in demise was suspected. We conducted a systematic literature review of early neonatal deaths within 14 days postpartum attributed to confirmed fatty acid oxidation disorders (FAODs), which are estimated to account for 5% of sudden infant deaths. We discuss the pitfalls of the NBS for MTPD/LCHADD.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467924","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

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community. 巴伦西亚社区脊髓性肌萎缩症新生儿筛查试点项目的结果。

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International Journal of Neonatal Screening Pub Date : 2025-01-14 DOI: 10.3390/ijns11010007

Alba Berzal-Serrano, Belén García-Bohórquez, Elena Aller, Teresa Jaijo, Inmaculada Pitarch-Castellano, Dolores Rausell, Gema García-García, José M Millán

{"title":"Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.","authors":"Alba Berzal-Serrano, Belén García-Bohórquez, Elena Aller, Teresa Jaijo, Inmaculada Pitarch-Castellano, Dolores Rausell, Gema García-García, José M Millán","doi":"10.3390/ijns11010007","DOIUrl":"10.3390/ijns11010007","url":null,"abstract":"Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 (SMN1) gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the onset of symptoms are critical for improving health outcomes in affected individuals. We carried out a screening test by quantitative PCR (qPCR) to amplify the exon seven of SMN1 using dried blood spot (DBS) samples. From October 2021 to August 2024, a total of 31,560 samples were tested in the Valencian Community (Spain) and 4 of them were positive for SMA, indicating an incidence of 1/7890. Genetic confirmation was performed using multiplex ligation-dependent probe amplification (MLPA) and AmplideX PCR/CE SMN1/2 Plus kit, in parallel obtaining concordant results in survival motor neuron 2 (SMN2) gene copy number. Within the first few weeks of their lives, two of the four patients detected by NBS showed signs of severe hypotonia, becoming ineligible for treatment. The other two patients were the first presymptomatic patients with two copies of SMN2 to receive treatment with Risdiplam in Spain. In order to treat positive cases in their early stages, we conclude that the official deployment of SMA newborn screening is necessary.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143022450","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

The Training and Evaluation of the "Dual-Index" Screening Method for Neonatal Congenital Heart Disease: A Multi-Center Study in China. 中国新生儿先天性心脏病“双指标”筛查方法的训练与评价：一项多中心研究

IF 4

International Journal of Neonatal Screening Pub Date : 2025-01-14 DOI: 10.3390/ijns11010008

Panpan Huang, Qing Gu, Xiaoting Zhu, Ijaz Ul Haq, Liling Li, Xiaojing Hu, Guoying Huang

{"title":"The Training and Evaluation of the \"Dual-Index\" Screening Method for Neonatal Congenital Heart Disease: A Multi-Center Study in China.","authors":"Panpan Huang, Qing Gu, Xiaoting Zhu, Ijaz Ul Haq, Liling Li, Xiaojing Hu, Guoying Huang","doi":"10.3390/ijns11010008","DOIUrl":"10.3390/ijns11010008","url":null,"abstract":"Background: This study aimed to enhance the scope of neonatal congenital heart disease (CHD) screening by evaluating the effectiveness of training personnel in CHD screening using the \"dual-index\" method, combining pulse oximetry with cardiac murmur auscultation.Methods: From 2019 to 2022, a total of 2374 screening personnel from the Xinjiang, Yunnan, Hainan, Fujian, and Anhui provinces underwent training in neonatal CHD screening using the \"dual-index\" method, which involves pulse oximetry and cardiac murmur auscultation. Pre- and post-training assessments were conducted using a neonatal CHD screening knowledge questionnaire, distributed through the Questionnaire Star platform, to evaluate the impact of the training. The annual neonatal CHD screening rates were consistently recorded in these five provinces during the same period to assess the increase in screening coverage.Results: After the training, the screening personnel exhibited a significantly improved understanding of the neonatal CHD screening method (p < 0.001). Additionally, the professional background (t = -8.007, p < 0.001) and years of experience (t = 2.839, p = 0.005) of the screening personnel were identified as independent factors influencing their screening knowledge. During the same period, there was consistent linear growth in the screening coverage rate for neonatal CHD across the five provinces (χ2 = 121065.416, p < 0.001).Conclusion: Standardized training in the \"dual-index\" method, incorporating pulse oximetry and cardiac murmur auscultation, for screening personnel significantly enhances their screening knowledge, thereby playing a critical role in expanding the coverage of neonatal CHD screening.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143022365","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

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity. 在华盛顿州推进新生儿筛查：一种新的多路LC-MS/MS蛋白质组学检测威尔逊病和先天性免疫错误。

IF 4

International Journal of Neonatal Screening Pub Date : 2025-01-10 DOI: 10.3390/ijns11010006

Claire Klippel, Jiwoon Park, Sean Sandin, Tara M L Winstone, Xue Chen, Dennis Orton, Aranjeet Singh, Jonathan D Hill, Tareq K Shahbal, Emily Hamacher, Brandon Officer, John Thompson, Phi Duong, Tim Grotzer, Si Houn Hahn

{"title":"Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.","authors":"Claire Klippel, Jiwoon Park, Sean Sandin, Tara M L Winstone, Xue Chen, Dennis Orton, Aranjeet Singh, Jonathan D Hill, Tareq K Shahbal, Emily Hamacher, Brandon Officer, John Thompson, Phi Duong, Tim Grotzer, Si Houn Hahn","doi":"10.3390/ijns11010006","DOIUrl":"10.3390/ijns11010006","url":null,"abstract":"For many genetic disorders, there are no specific metabolic biomarkers nor analytical methods suitable for newborn population screening, even where highly effective preemptive treatments are available. The direct measurement of signature peptides as a surrogate marker for the protein in dried blood spots (DBSs) has been shown to successfully identify patients with Wilson Disease (WD) and three life-threatening inborn errors of immunity, X-linked agammaglobulinemia (XLA), Wiskott-Aldrich syndrome (WAS), and adenosine deaminase deficiency (ADAD). A novel proteomic-based multiplex assay to detect these four conditions from DBS using high-throughput LC-MS/MS was developed and validated. The clinical validation results showed that the assay can accurately identify patients of targeted disorders from controls. Additionally, 30,024 newborn DBS samples from the Washington State Department of Health Newborn Screening Laboratory have been screened from 2022 to 2024. One true presumptive positive case of WD was found along with three false positive cases. Five false positives for WAS were detected, but all of them were premature and/or low-birth-weight babies and four of them had insufficient DNA for confirmation. The pilot study demonstrates the feasibility and effectiveness of utilizing this multiplexed proteomic assay for newborn screening.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755445/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023495","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

Development, Validation, and Application of the Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) for Inborn Metabolic Disorders in Dried Blood Spot Samples from Iranian Infants. Paya Hamsan技术公司开发、验证和应用未激活新生儿筛查法（PHUNSA）检测伊朗婴儿干血斑样本中的先天性代谢紊乱。

IF 4

International Journal of Neonatal Screening Pub Date : 2025-01-08 DOI: 10.3390/ijns11010004

Azam Khodadadi, Saber Nanbedeh, Mahsa Joodaki, Bradford L Therrell, Kambiz Gilany

{"title":"Development, Validation, and Application of the Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) for Inborn Metabolic Disorders in Dried Blood Spot Samples from Iranian Infants.","authors":"Azam Khodadadi, Saber Nanbedeh, Mahsa Joodaki, Bradford L Therrell, Kambiz Gilany","doi":"10.3390/ijns11010004","DOIUrl":"10.3390/ijns11010004","url":null,"abstract":"Screening for inborn metabolic disorders (IMDs) in newborns is an important way to prevent serious metabolic and developmental difficulties that can result in lasting disabilities or even death. Electrospray ionization tandem mass spectrometry (MS/MS) provides an efficacious newborn blood spot screening (NBS) mechanism for analyzing dried blood spot specimens (DBSs) for biochemical markers for these conditions. Where possible, the elimination of derivatization in specimen preparation can simplify and streamline analysis. The Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) is an underivatized MS/MS test kit for IMD NBS. Validation of the accuracy, precision, linearity, and stability was based on the ISO 15189 standard and the CLSI NBS04 guideline. The PHUNSA kit demonstrated suitable performance along with acceptable recovery rates and negligible bias for many IMD analytes. Assay sensitivity was demonstrated through acceptable limits of detection (LOD) and lower limits of quantification (LLOQ). Specimen preparation times were decreased, the coefficients of variation were consistently below 10%, and accuracy and stability were demonstrated under various testing conditions, including prolonged storage and transportation. The PHUNSA kit provides a simplified, efficient, and reliable approach to IMD NBS with the potential to enhance NBS in Iran and other locations by providing a scalable, cost-effective, and streamlined option for early IMD detection and management.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023496","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

Maternity Care Providers' Experiences with Providing Information on Newborn Bloodspot Screening During Pregnancy: A Dutch Survey Study. 产科护理提供者在怀孕期间提供新生儿血斑筛查信息的经验：一项荷兰调查研究。

IF 4

International Journal of Neonatal Screening Pub Date : 2025-01-08 DOI: 10.3390/ijns11010005

Jasmijn E Klapwijk, Janneke Gitsels-van der Wal, Linda Martin, Rendelien K Verschoof-Puite, Ellen Elsinghorst, Lidewij Henneman

{"title":"Maternity Care Providers' Experiences with Providing Information on Newborn Bloodspot Screening During Pregnancy: A Dutch Survey Study.","authors":"Jasmijn E Klapwijk, Janneke Gitsels-van der Wal, Linda Martin, Rendelien K Verschoof-Puite, Ellen Elsinghorst, Lidewij Henneman","doi":"10.3390/ijns11010005","DOIUrl":"10.3390/ijns11010005","url":null,"abstract":"Newborn bloodspot screening (NBS) aims to detect treatable disorders in newborns to offer early interventions. According to the official Dutch national NBS guidance, parents in the Netherlands should be informed about NBS during pregnancy by maternity care providers (MCPs), providing two leaflets and oral information. This study investigated what, how, and when information about NBS is given during pregnancy according to Dutch MCPs. An online questionnaire was completed by 279 MCPs; 237 (84.9%) provided information to parents themselves, although 4.6% of them only did so postnatally, and 240 (86.0%) considered this the task of the MCP. Among the 237 MCPs, information was provided by personal conversation (59.9%) and by giving at least one leaflet (83.1%), while 25.7% only gave leaflets. Being a first pregnancy (45.1%) and parents' literacy (38.8%) influenced how MCPs provided information. Information was mostly provided at 34-37 weeks gestation (68.8%). Conversations mostly included giving information on when NBS will be performed (97.2%), the purpose of NBS (93.7%), how the test will be performed (92.3%), and participation being voluntary (80.3%). The results suggest that while most Dutch MCPs consider it their task to provide NBS information, its timing, method, and completeness do not always follow the established guidelines.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"11 1","pages":""},"PeriodicalIF":4.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143022449","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