International Journal of Neonatal Screening最新文献_第10页

Identifying Clinical Criteria for an Expanded Targeted Approach to Screening for Congenital Cytomegalovirus Infection-A Retrospective Study. 确定先天性巨细胞病毒感染扩大靶向筛查方法的临床标准——一项回顾性研究

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-07-24 DOI: 10.3390/ijns9030040

Maya Heled Akiva, Hannah Hyde De Souza, Valerie Lamarre, Isabelle Boucoiran, Soren Gantt, Christian Renaud, Fatima Kakkar

{"title":"Identifying Clinical Criteria for an Expanded Targeted Approach to Screening for Congenital Cytomegalovirus Infection-A Retrospective Study.","authors":"Maya Heled Akiva, Hannah Hyde De Souza, Valerie Lamarre, Isabelle Boucoiran, Soren Gantt, Christian Renaud, Fatima Kakkar","doi":"10.3390/ijns9030040","DOIUrl":"https://doi.org/10.3390/ijns9030040","url":null,"abstract":"Targeted screening for congenital CMV infection (cCMV), which entails CMV testing of infants who fail newborn hearing screening (NBHS), has become common practice. However, this strategy misses nearly all infected infants with normal hearing at birth who are nonetheless at high risk of subsequent hearing loss and would benefit from timely cCMV diagnosis. The objective of this study was to identify expanded criteria predictive of cCMV to increase the scope and utility of targeted newborn CMV screening. In this retrospective study, 465 newborns were tested for cCMV at a single tertiary care center with a targeted screening program between 2014 and 2018. Twenty-two infants were diagnosed with cCMV, representing 0.2% of the 12,189 births over this period and 4.7% of the infants tested. The highest prevalence of cCMV infection was among infants tested because of primary maternal CMV infection (8/42, 19%), followed by failed initial NBHS (10/88, 11.4%), maternal HIV infection (3/137, 2.2%), and clinical suspicion alone (5/232, 2.2%). The symptoms with the highest prevalence of infection among all infants tested included an enlarged liver and/or spleen (33.3%) (3/9), followed by petechiae (33.3%), microcephaly (9.4%), direct hyperbilirubinemia (7.7%), thrombocytopenia (6%), and growth impairment (4.3%). In addition to CMV screening of newborns who fail the NBHS, these data suggest that certain clinical signs of cCMV-in particular: thrombocytopenia, growth impairment, and HIV exposure in pregnancy-should be additional criteria for expanded targeted newborn CMV screening, where universal screening is not yet the standard of care.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9929443","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 of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process. 利用层次分析法建立日本新生儿筛查定量评估模型。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-07-14 DOI: 10.3390/ijns9030039

Keiko Konomura, Eri Hoshino, Kotomi Sakai, Takashi Fukuda, Go Tajima

{"title":"Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process.","authors":"Keiko Konomura, Eri Hoshino, Kotomi Sakai, Takashi Fukuda, Go Tajima","doi":"10.3390/ijns9030039","DOIUrl":"https://doi.org/10.3390/ijns9030039","url":null,"abstract":"Whether or not conditions should be included in publicly funded newborn screening (NBS) programs should be discussed according to objective and transparent criteria. Certain criteria have been developed for the introduction of NBS programs in the context of individual countries; however, there are no standard selection criteria for NBS programs in Japan. This study aimed to develop a quantitative scoring model to assess newborn screening that incorporates the views of a variety of stakeholders in Japan. The five recommended eligibility criteria for NBS were stratified based on previous studies and expert opinions, using the analytic hierarchy process. We conducted a cross-sectional, web-based questionnaire targeting a wide range of people involved in NBS to investigate pairwise comparisons of the evaluation items between February and April of 2022. There were 143 respondents. Most of our respondents (44.1%) were physicians. Fifty-eight respondents (40.6%) had been engaged in NBS-related research or work for more than 10 years. The distribution of allocation points was the highest for 'intervention', 'screening test', 'follow-up setting', 'economic evaluation', and 'disease/condition', in that order. The algorithm in this study will guide decision makers in collecting and evaluating objective data, thus enabling transparent discussions to occur.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9929446","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

Communicating a Positive Result at Newborn Screening and Parental Distress. 传达新生儿筛查阳性结果和父母的焦虑。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-07-14 DOI: 10.3390/ijns9030038

Elisa Lastrucci, Marta Daniotti, Elena Procopio, Giusi Scaturro, Flavia Tubili, Rosanna Martin, Giancarlo la Marca

{"title":"Communicating a Positive Result at Newborn Screening and Parental Distress.","authors":"Elisa Lastrucci, Marta Daniotti, Elena Procopio, Giusi Scaturro, Flavia Tubili, Rosanna Martin, Giancarlo la Marca","doi":"10.3390/ijns9030038","DOIUrl":"10.3390/ijns9030038","url":null,"abstract":"The assumption of this study is strictly connected to the need to focus and to know more about the impact on the psychological state of the parents whose newborn babies get a positive result at Expanded Newborn Screening (ENS). As clinical experience shows us, this aspect seems to have a potentially lasting resonance on the way the disease will be managed and handled in the family, leading to potential negative effects and repercussions on the child's wellbeing and on the quality of life within the family. On the basis of this and on the evidence emerging from a review of the literature, this study aims to investigate and objectify possible distress indicators elicited at the moment of the communication of a positive result at ENS. Questionnaires containing the Beck Depression Inventory-II, the State-Trait Anxiety Inventory-Y, and the Short Form 36 Health Survey tests were administered to the parents of 87 newborns who received positive results at ENS. The parents of 32 babies expressed the presence of discomfort potentially related to the communication of a positive result at ENS.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9929447","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 Qualitative Assessment of Clinical Practice Guidelines and Patterns for Congenital Cytomegalovirus in the United States. 美国先天性巨细胞病毒临床实践指南和模式的定性评估。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-06-30 DOI: 10.3390/ijns9030037

Stephanie Kalb, John Diaz-Decaro, Harout Tossonian, Andrew Natenshon, Lori Panther, James Mansi, Laura Gibson

{"title":"A Qualitative Assessment of Clinical Practice Guidelines and Patterns for Congenital Cytomegalovirus in the United States.","authors":"Stephanie Kalb, John Diaz-Decaro, Harout Tossonian, Andrew Natenshon, Lori Panther, James Mansi, Laura Gibson","doi":"10.3390/ijns9030037","DOIUrl":"https://doi.org/10.3390/ijns9030037","url":null,"abstract":"Cytomegalovirus (CMV) infection during pregnancy may result in long-term health problems for children with congenital CMV (cCMV). Currently, no prevention or treatment interventions are approved by the Food and Drug Administration for a cCMV indication. Healthcare provider and public awareness is low, and formal clinical practice guidelines and local practice patterns vary. A pilot study of eight cCMV experts was performed using qualitative semi-structured interviews to better understand clinical practice guidelines and patterns in the United States. Results from participant interviews highlighted the need for better prenatal diagnostic techniques, broader neonatal screening opportunities, and more robust evidence supporting intervention strategies. Healthcare provider and public partnerships are essential for advancing cCMV guidelines and improving care delivery. Our results provide a preliminary knowledge base and framework for developing a consensus cCMV research agenda to address evidence gaps that limit the revision of clinical practice guidelines. The changes in clinical practice patterns that may arise as a result of further research have the potential to reduce risk during pregnancy and improve care for children with cCMV infection.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10233464","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

Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation. 儿童时期基于年龄的基因组筛查：公共卫生基因组学实施过程中的伦理和实践考量。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-06-27 DOI: 10.3390/ijns9030036

Laura V Milko, Jonathan S Berg

{"title":"Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.","authors":"Laura V Milko, Jonathan S Berg","doi":"10.3390/ijns9030036","DOIUrl":"10.3390/ijns9030036","url":null,"abstract":"Genomic sequencing offers an unprecedented opportunity to detect inherited variants that are implicated in rare Mendelian disorders, yet there are many challenges to overcome before this technology can routinely be applied in the healthy population. The age-based genomic screening (ABGS) approach is a novel alternative to genome-scale sequencing at birth that aims to provide highly actionable genetic information to parents over the course of their child's routine health care. ABGS utilizes an established metric to identify conditions with high clinical actionability and incorporates information about the age of onset and age of intervention to determine the optimal time to screen for any given condition. Ongoing partnerships with parents and providers are instrumental to the co-creation of educational resources and strategies to address potential implementation barriers. Implementation science frameworks and informative empirical data are used to evaluate strategies to establish this unique clinical application of targeted genomic sequencing. Ultimately, a pilot project conducted in primary care pediatrics clinics will assess patient and implementation outcomes, parent and provider perspectives, and the feasibility of ABGS. A validated, stakeholder-informed, and practical ABGS program will include hundreds of conditions that are actionable during infancy and childhood, setting the stage for a longitudinal implementation that can assess clinical and health economic outcomes.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10233461","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

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures. 我们的新生儿筛查工作顺利吗？新生儿血点筛查（NBS）基础设施和程序的质量要求文献综述。

IF 4

International Journal of Neonatal Screening Pub Date : 2023-06-22 DOI: 10.3390/ijns9030035

Birgit Odenwald, Inken Brockow, Marianne Hanauer, Anja Lüders, Uta Nennstiel

{"title":"Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures.","authors":"Birgit Odenwald, Inken Brockow, Marianne Hanauer, Anja Lüders, Uta Nennstiel","doi":"10.3390/ijns9030035","DOIUrl":"10.3390/ijns9030035","url":null,"abstract":"Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, severe disability or death are impressively prevented by early detection and early treatment through NBS. However, as with any other screening, NBS can also cause harm, and the principle that \"the overall benefits of screening should outweigh the harms\" must be considered when introducing and implementing NBS programmes. This publication compiles the results of a systematic literature research on requirements for NBS infrastructure and procedures which was conducted as part of a research project on the quality and shortcomings of the NBS pathway in Germany. The compilation contains the requirements and recommendations for realising the principle of \"maximise benefits and minimise harms\" in relevant NBS pathway components such as parental education and information, coverage, timeliness, laboratory quality assurance, follow-up of abnormal results, confirmatory diagnostics, documentation, and evaluation. The results reflect the complexity of NBS infrastructure, and thus, they illustrate the importance of considering and implementing NBS as a well-coordinated public health programme with continuous quality management. Special attention should be paid to the perspectives of parents and families. Some NBS issues can substantially benefit from digital instruments or international cooperation. The literature review presented here has contributed to a concept of proposals for the advancement of NBS in Germany, and despite different settings, it may as well be of interest for other countries to achieve the best possible course and outcome of NBS for each child.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 3","pages":""},"PeriodicalIF":4.0,"publicationDate":"2023-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10233462","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

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots. 贮藏干血斑中氨基酸长期稳定性的重要启示。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-06-21 DOI: 10.3390/ijns9030034

Allysa M Dijkstra, Pim de Blaauw, Willemijn J van Rijt, Hanneke Renting, Ronald G H J Maatman, Francjan J van Spronsen, Rose E Maase, Peter C J I Schielen, Terry G J Derks, M Rebecca Heiner-Fokkema

{"title":"Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.","authors":"Allysa M Dijkstra, Pim de Blaauw, Willemijn J van Rijt, Hanneke Renting, Ronald G H J Maatman, Francjan J van Spronsen, Rose E Maase, Peter C J I Schielen, Terry G J Derks, M Rebecca Heiner-Fokkema","doi":"10.3390/ijns9030034","DOIUrl":"https://doi.org/10.3390/ijns9030034","url":null,"abstract":"Residual heel prick Dried Blood Spots (DBS) are valuable samples for retrospective investigation of inborn metabolic diseases (IMD) and biomarker analyses. Because many metabolites suffer time-dependent decay, we investigated the five-year stability of amino acids (AA) in residual heel prick DBS. In 2019/2020, we analyzed 23 AAs in 2170 residual heel prick DBS from the Dutch neonatal screening program, stored from 2013-2017 (one year at +4 °C and four years at room temperature), using liquid chromatography mass-spectrometry. Stability was assessed by AA changes over the five years. Hydroxyproline could not be measured accurately and was not further assessed. Concentrations of 19 out of the remaining 22 AAs degraded significantly, ranked from most to least stable: aspartate, isoleucine, proline, valine, leucine, tyrosine, alanine, phenylalanine, threonine, citrulline, glutamate, serine, ornithine, glycine, asparagine, lysine, taurine, tryptophan and glutamine. Arginine, histidine and methionine concentrations were below the limit of detection and were likely to have been degraded within the first year of storage. AAs in residual heel prick DBS stored at room temperature are subject to substantial degradation, which may cause incorrect interpretation of test results for retrospective biomarker studies and IMD diagnostics. Therefore, retrospective analysis of heel prick blood should be done in comparison to similarly stored heel prick blood from controls.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 3","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10251573","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

Comparison of Overall Sensitivity and Specificity across Different Newborn Screening Algorithms for Congenital Cytomegalovirus. 不同新生儿先天性巨细胞病毒筛查算法的敏感性和特异性比较

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-06-14 DOI: 10.3390/ijns9020033

Mark R Schleiss, Lori Panther, Sandeep Basnet, Meklit Workneh, John Diaz-Decaro

{"title":"Comparison of Overall Sensitivity and Specificity across Different Newborn Screening Algorithms for Congenital Cytomegalovirus.","authors":"Mark R Schleiss, Lori Panther, Sandeep Basnet, Meklit Workneh, John Diaz-Decaro","doi":"10.3390/ijns9020033","DOIUrl":"https://doi.org/10.3390/ijns9020033","url":null,"abstract":"Screening newborns for congenital cytomegalovirus (cCMV) infection is critical for early detection and prompt diagnosis of related long-term consequences of infection, such as sensorineural hearing loss and neurodevelopmental delays. The objective of this study was to describe the validity of different newborn cCMV infection screening approaches and compare the expected number of cCMV cases detected across targeted and universal screening algorithms. The overall sensitivity (OSn) of targeted screening algorithms that required failure of auditory brain stem response and transient evoked otoacoustic emissions (TOAE; two-fail serial testing) or TOAE only (one-fail serial testing) before diagnostic CMV testing using saliva and urine PCR tests was 79% and 88%, respectively. The OSn for two-fail serial testing with diagnostic CMV testing using dried blood spot (DBS) was 75%. In contrast, OSn was 90% for universal screening (saliva and urine PCR tests) and 86% for universal screening with DBS testing alone. Overall, specificities were 100% across all algorithms. Universal screening using DBS testing and universal screening using saliva and urine testing can potentially detect 312 and 373 more cCMV cases per 100,000 live births, respectively, than two-fail serial testing. Overall, implementing universal cCMV newborn screening would improve cCMV detection, ultimately leading to better health outcomes.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9773831","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: 1

Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation. 使用冷诱导相分离将伊杜醛酸-2-硫酸盐酶(MPS-II)多路转化为7-Plex溶酶体储存障碍的质谱/质谱分析。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-06-08 DOI: 10.3390/ijns9020032

Elya Courtney, C Austin Pickens, Carla Cuthbert, Konstantinos Petritis

{"title":"Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation.","authors":"Elya Courtney, C Austin Pickens, Carla Cuthbert, Konstantinos Petritis","doi":"10.3390/ijns9020032","DOIUrl":"https://doi.org/10.3390/ijns9020032","url":null,"abstract":"Mucopolysaccharidosis type II (MPS-II, Hunter syndrome, OMIM:30990) is a lysosomal storage disorder (LSD) that results in iduronate 2-sulphatase (I2S) enzyme deficiency. MPS-II was added to the Recommended Uniform Screening Panel (RUSP) in August 2022; thus, there is an increased demand for multiplexing I2S into existing LSD screening assays. After incubation with LSD synthetic substrates, extracts are cleaned using liquid-liquid extraction with ethyl acetate or protein precipitation using acetonitrile (ACN). We investigated cold-induced water ACN phase separation (CIPS) to improve the combination of 6-plex and I2S extracts to create a 7-plex assay, and compared it to room temperature ACN and ethyl acetate liquid-liquid extraction. The extracts were dried and resuspended in the mobile phase, and then analyzed using an optimized 1.9 min injection-to-injection liquid chromatography method coupled with tandem mass spectrometry (LC-MS/MS). The combination of ACN and CIPS improved the detection for I2S products without significant detriment to other analytes, which is attributable to a more complete coagulation and separation of heme, proteins, and extracted residual salts. Using CIPS for sample cleanup in dried blood spots (DBS) appears to represent a promising and straightforward way of achieving cleaner sample extracts in a new 7-plex LSD screening panel.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9773833","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 Fabry Disease: Current Status of Knowledge. 新生儿法布里病筛查:知识现状

IF 3.5

International Journal of Neonatal Screening Pub Date : 2023-06-05 DOI: 10.3390/ijns9020031

Vincenza Gragnaniello, Alessandro P Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto B Burlina

{"title":"Newborn Screening for Fabry Disease: Current Status of Knowledge.","authors":"Vincenza Gragnaniello, Alessandro P Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla, Alberto B Burlina","doi":"10.3390/ijns9020031","DOIUrl":"https://doi.org/10.3390/ijns9020031","url":null,"abstract":"Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthood. Unfortunately, the diagnosis is often delayed until the organ damage is already irreversibly severe, making specific treatments less efficacious. For this reason, in the last two decades, newborn screening has been implemented to allow early diagnosis and treatment. This became possible with the application of the standard enzymology fluorometric method to dried blood spots. Then, high-throughput multiplexable assays, such as digital microfluidics and tandem mass spectrometry, were developed. Recently DNA-based methods have been applied to newborn screening in some countries. Using these methods, several newborn screening pilot studies and programs have been implemented worldwide. However, several concerns persist, and newborn screening for Fabry disease is still not universally accepted. In particular, enzyme-based methods miss a relevant number of affected females. Moreover, ethical issues are due to the large number of infants with later onset forms or variants of uncertain significance. Long term follow-up of individuals detected by newborn screening will improve our knowledge about the natural history of the disease, the phenotype prediction and the patients' management, allowing a better evaluation of risks and benefits of the newborn screening for Fabry disease.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":"9 2","pages":""},"PeriodicalIF":3.5,"publicationDate":"2023-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9773830","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