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Int. J. Neonatal Screen., Volume 10, Issue 2 (June 2024) – 11 articles

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12 pages, 778 KiB  
Article
Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening
by Yvonne Kellar-Guenther, Lauren Barringer, Katherine Raboin, Ginger Nichols, Kathy Y. F. Chou, Kathy Nguyen, Amy R. Burke, Sandy Fawbush, Joyal B. Meyer, Morna Dorsey, Amy Brower, Kee Chan, Mei Lietsch, Jennifer Taylor, Michele Caggana and Marci K. Sontag
Int. J. Neonatal Screen. 2024, 10(2), 37; https://doi.org/10.3390/ijns10020037 - 15 May 2024
Viewed by 490
Abstract
Newborn screening (NBS) is hailed as a public health success, but little is known about the long-term outcomes following a positive newborn screen. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort. Six programs developed and tested [...] Read more.
Newborn screening (NBS) is hailed as a public health success, but little is known about the long-term outcomes following a positive newborn screen. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort. Six programs developed and tested a core set of minimal LTFU data elements. After an iterative data collection process and the development of a data collection tool, the group agreed on the minimal LTFU data elements. The denominator captured all infants with an NBS diagnosis, accounting for children who moved or died prior to the follow-up year. They also agreed on three LTFU outcomes: if the child was still alive, had contact with a specialist, and received appropriate care specific to their diagnosis within the year. The six programs representing NBS public health programs, clinical providers, and research programs provided data across multiple NBS disorders. In 2022, 83.8% (563/672) of the children identified by the LTFU programs were alive and living in the jurisdiction; of those, 92.0% (518/563) saw a specialist, and 87.7% (494/563) received appropriate care. The core LTFU data elements can be applied as a foundation to address the impact of early diagnosis by NBS within and across jurisdictions. Full article
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11 pages, 539 KiB  
Article
Economic Rationality in Decision-Making Regarding Newborn Screening: A Case Study in Quebec
by Van Hoa Ho, Yves Giguère and Daniel Reinharz
Int. J. Neonatal Screen. 2024, 10(2), 36; https://doi.org/10.3390/ijns10020036 - 13 May 2024
Viewed by 404
Abstract
Health systems in high-resource countries recognize the importance of making decisions about the services offered to the population based on scientific evidence. Producing this evidence is especially challenging in areas such as newborn care where the frequency of conditions is rare. However, methodological [...] Read more.
Health systems in high-resource countries recognize the importance of making decisions about the services offered to the population based on scientific evidence. Producing this evidence is especially challenging in areas such as newborn care where the frequency of conditions is rare. However, methodological advances in the field of economic evaluation could change how this evidence is used in decision-making. This study aimed to investigate how decision-makers in the Canadian province of Quebec perceive the value of recent advances in economic evaluations for perinatal studies and how these advances might affect the offer of neonatal interventions in the public health care system. A qualitative study was conducted. A total of 10 policymakers were interviewed. A neo-institutional conceptual framework highlighting three dimensions, structure, power, and interpretive schemes, was used for data collection and analyses. Structural factors, interpretative schemes, and power management between the groups concerned concur to ensure that providing services to newborns is not hindered by the difficulty of producing evidence. They also ensure that the decisions regarding which disease to screen for take into consideration the specificity of neonatology, in particular, the social value given to children not captured by available evidence. Full article
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11 pages, 1255 KiB  
Article
Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program
by Iveta Sosova, Alyssa Archibald, Erik W. Rosolowsky, Sarah Rathwell, Susan Christian and Elizabeth T. Rosolowsky
Int. J. Neonatal Screen. 2024, 10(2), 35; https://doi.org/10.3390/ijns10020035 - 2 May 2024
Viewed by 442
Abstract
The effectiveness of newborn screening (NBS) for congenital hypothyroidism (CH) relies on timely screening, confirmation of diagnosis, and initiation and ongoing monitoring of treatment. The objective of this study was to ascertain the extent to which infants with CH have received timely and [...] Read more.
The effectiveness of newborn screening (NBS) for congenital hypothyroidism (CH) relies on timely screening, confirmation of diagnosis, and initiation and ongoing monitoring of treatment. The objective of this study was to ascertain the extent to which infants with CH have received timely and appropriate management within the first 3 years of life, following diagnosis through NBS in Alberta, Canada. Deidentified laboratory data were extracted between 1 April 2014 and 31 March 2019 from Alberta Health administrative databases for infants born in this time frame. Time to lab collection was anchored from date of birth. Timeliness was assessed as the frequency of monitoring of Thyroid Stimulating Hormone (TSH) and appropriateness as the frequency of children maintaining biochemical euthyroidism. Among 160 term infants, 95% had confirmation of diagnosis by 16 days of age. The cohort had a median of 2 (range 0–5) TSH measurements performed in the time interval from 0 to 1 month, 4 (0–12) from 1 to 6 months, 2 (0–10) from 6 to 12 months, and 7 (0–21) from 12 to 36 months. Approximately half were still biochemically hypothyroid (TSH > 7 mU/L) at 1 month of age. After becoming euthyroid, at least some period of hypo- (60%) or hyperthyroidism (TSH < 0.2 mU/L) (39%) was experienced. More work needs to be performed to discern factors contributing to prolonged periods of hypothyroidism or infrequent lab monitoring. Full article
(This article belongs to the Special Issue Newborn Screening for Congenital Hypothyroidism)
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12 pages, 2300 KiB  
Brief Report
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
by Mei Lietsch, Kee Chan, Jennifer Taylor, Bo Hoon Lee, Emma Ciafaloni, Jennifer M. Kwon, Megan A. Waldrop, Russell J. Butterfield, Geetanjali Rathore, Aravindhan Veerapandiyan, Arya Kapil, Julie A. Parsons, Melissa Gibbons and Amy Brower
Int. J. Neonatal Screen. 2024, 10(2), 34; https://doi.org/10.3390/ijns10020034 - 18 Apr 2024
Viewed by 1214
Abstract
In the United States and around the world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis and treatment. The number of screened conditions continues to expand as novel technologies for screening, diagnosing, treating, and managing disease are discovered. [...] Read more.
In the United States and around the world, newborns are screened on a population basis for conditions benefiting from pre-symptomatic diagnosis and treatment. The number of screened conditions continues to expand as novel technologies for screening, diagnosing, treating, and managing disease are discovered. While screening all newborns facilitates early diagnosis and treatment, most screened conditions are treatable but not curable. Patients identified by newborn screening often require lifelong medical management and community support to achieve the best possible outcome. To advance the long-term follow-up of infants identified through newborn screening (NBS), the Long-Term Follow-up Cares and Check Initiative (LTFU-Cares and Check) designed, implemented, and evaluated a system of longitudinal data collection and annual reporting engaging parents, clinical providers, and state NBS programs. The LTFU-Cares and Check focused on newborns identified with spinal muscular atrophy (SMA) through NBS and the longitudinal health information prioritized by parents and families. Pediatric neurologists who care for newborns with SMA entered annual data, and data tracking and visualization tools were delivered to state NBS programs with a participating clinical center. In this publication, we report on the development, use of, and preliminary results from the LTFU-Cares and Check Initiative, which was designed as a comprehensive model of LTFU. We also propose next steps for achieving the goal of a national system of LTFU for individuals with identified conditions by meaningfully engaging public health agencies, clinicians, parents, families, and communities. Full article
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6 pages, 171 KiB  
Commentary
An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders
by Wendy K. Chung, Stephen M. Kanne and Zhanzhi Hu
Int. J. Neonatal Screen. 2024, 10(2), 33; https://doi.org/10.3390/ijns10020033 - 16 Apr 2024
Viewed by 787
Abstract
Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly penetrant genetic neurodevelopmental disorders. Here, [...] Read more.
Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly penetrant genetic neurodevelopmental disorders. Here, we discuss the initial experience from the GUARDIAN study and the systemic gaps in clinical services that were identified in the early stages of the pilot study. Full article
12 pages, 1439 KiB  
Article
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
by Oindrila Bhattacharyya, Nicola B. Campoamor, Niki Armstrong, Megan Freed, Rachel Schrader, Norah L. Crossnohere and John F. P. Bridges
Int. J. Neonatal Screen. 2024, 10(2), 32; https://doi.org/10.3390/ijns10020032 - 15 Apr 2024
Viewed by 875
Abstract
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, [...] Read more.
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child’s diagnosis. We assessed parents’ viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience. We analyzed closed-ended responses on a −1.0 to +1.0 scale to measure the degree of harm or benefit parents perceived and analyzed open-ended responses thematically. A total of 45 parents completed the survey, with an average age of 43.5 years and 20.0% identifying as non-white. Younger siblings were diagnosed 2 years earlier on average (p < 0.001). Overall, parents viewed early diagnosis positively (mean: 0.39), particularly regarding school preparedness (+0.79), support services (+0.78), treatment evaluation (+0.68), and avoiding diagnostic odyssey (+0.67). Increased worry was a common downside (−0.40). Open-ended responses highlighted improved outlook and health management alongside heightened emotional distress and treatment burdens. These findings address gaps in the evidence by documenting the effectiveness of early screening and diagnosis of DMD using sibling data. Full article
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15 pages, 267 KiB  
Article
International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis
by Corinna C. A. Clark, Pru Holder, Felicity K. Boardman, Louise Moody, Jacqui Cowlard, Lorna Allen, Claire Walter, James R. Bonham and Jane Chudleigh
Int. J. Neonatal Screen. 2024, 10(2), 31; https://doi.org/10.3390/ijns10020031 - 8 Apr 2024
Viewed by 808
Abstract
There is increasing interest in using extended genetic sequencing (EGS) in newborn screening (NBS) for cystic fibrosis (CF). How this is implemented will change the number of children being given an uncertain outcome of CRMS/CFSPID (cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/CF [...] Read more.
There is increasing interest in using extended genetic sequencing (EGS) in newborn screening (NBS) for cystic fibrosis (CF). How this is implemented will change the number of children being given an uncertain outcome of CRMS/CFSPID (cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/CF Screen Positive Inconclusive Diagnosis), probable carrier results, and the number of missed CF diagnoses. An international survey of CF health professionals was used to gather views on two approaches to EGS—specific (may reduce detection of CRMS/CFSID but miss some CF cases) versus sensitive (may increase detection of CRMS/CFSPID but avoid missing more CF cases). Health professionals acknowledged the anxiety caused to parents (and health professionals) from the uncertainty surrounding the prognosis and management of CRMS/CFSPID. However, most preferred the sensitive approach, as overall, identifying more cases of CRMS/CFSPID was viewed as less physically and psychologically damaging than a missed case of CF. The importance of early diagnosis and treatment for CF to ensure better health outcomes and reducing diagnostic odysseys for parents were highlighted. A potential benefit to identifying more children with CRMS/CFSPID included increasing knowledge to obtain a better understanding of how these children should best be managed in the future. Full article
4 pages, 193 KiB  
Conference Report
Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress
by Leire Solis, Samya Van Coillie, James R. Bonham, Fabian Hauck, Lennart Hammarström, Frank J. T. Staal, Bruce Lim, Martine Pergent and Johan Prévot
Int. J. Neonatal Screen. 2024, 10(2), 30; https://doi.org/10.3390/ijns10020030 - 5 Apr 2024
Viewed by 528
Abstract
This article presents the report of the session on “Newborn Screening for Primary Immunodeficiencies—Now What?” organised during the International Primary Immunodeficiency Congress (IPIC) held in November 2023. This clinical conference was organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), the global [...] Read more.
This article presents the report of the session on “Newborn Screening for Primary Immunodeficiencies—Now What?” organised during the International Primary Immunodeficiency Congress (IPIC) held in November 2023. This clinical conference was organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), the global patient organisation advocating for primary immunodeficiencies (PIDs) in patients. The session aimed at exploring the advances in newborn screening (NBS) for severe combined immunodeficiency, starting with the common practice and inserting the discussion into the wider perspective of genomics whilst taking into consideration the ethical aspects of screening as well as incorporating families and the public into the discussions, so as to ensure that NBS for treatable rare disorders continues to be one of the major public health advances of the 20th century. Full article
10 pages, 225 KiB  
Article
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review
by Maria Al Bandari, Laura Nagy, Vivian Cruz, Stacy Hewson, Alomgir Hossain and Michal Inbar-Feigenberg
Int. J. Neonatal Screen. 2024, 10(2), 29; https://doi.org/10.3390/ijns10020029 - 30 Mar 2024
Viewed by 577
Abstract
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic condition affecting the mitochondrial beta-oxidation of long-chain fatty acids. This study reports on the clinical outcomes of patients diagnosed by newborn screening with VLCAD deficiency comparing metabolic parameters, enzyme activities, molecular results, and [...] Read more.
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic condition affecting the mitochondrial beta-oxidation of long-chain fatty acids. This study reports on the clinical outcomes of patients diagnosed by newborn screening with VLCAD deficiency comparing metabolic parameters, enzyme activities, molecular results, and clinical management. It is a single-center retrospective chart review of VLCAD deficiency patients who met the inclusion criteria between January 2002 and February 2020. The study included 12 patients, 7 of whom had an enzyme activity of more than 10%, and 5 patients had an enzyme activity of less than 10%. The Pearson correlation between enzyme activity and the C14:1 level at newborn screening showed a p-value of 0.0003, and the correlation between enzyme activity and the C14:1 level at diagnosis had a p-value of 0.0295. There was no clear correlation between the number of documented admissions and the enzyme activity level. Patients who had a high C14:1 value at diagnosis were started on a diet with a lower percentage of energy from long-chain triglycerides. The C14:1 result at diagnosis is the value that has been guiding our initial clinical management in asymptomatic diagnosed newborns. However, the newborn screening C14:1 value is the most sensitive predictor of low enzyme activity and may help guide dietary management. Full article
15 pages, 534 KiB  
Article
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
by Chengfang Tang, Lixin Li, Ting Chen, Yulin Li, Bo Zhu, Yinhong Zhang, Yifan Yin, Xiulian Liu, Cidan Huang, Jingkun Miao, Baosheng Zhu, Xiaohua Wang, Hui Zou, Lianshu Han, Jizhen Feng and Yonglan Huang
Int. J. Neonatal Screen. 2024, 10(2), 28; https://doi.org/10.3390/ijns10020028 - 29 Mar 2024
Viewed by 684
Abstract
The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a multicenter study of 29,601 newborns from [...] Read more.
The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a multicenter study of 29,601 newborns from eight screening centers with NBS via NGS combined with MS/MS. A custom-designed panel targeting the coding region of the 142 genes of 128 inborn errors of metabolism (IEMs) was applied as a first-tier screening test, and expanded NBS using MS/MS was executed simultaneously. In total, 52 genes associated with the 38 IEMs screened by MS/MS were analyzed. The NBS performance of these two methods was analyzed and compared respectively. A total of 23 IEMs were diagnosed via NGS combined with MS/MS. The incidence of IEMs was approximately 1 in 1287. Within separate statistical analyses, the positive predictive value (PPV) for MS/MS was 5.29%, and the sensitivity was 91.3%. However, for genetic screening alone, the PPV for NGS was 70.83%, with 73.91% sensitivity. The three most common IEMs were methylmalonic academia (MMA), primary carnitine deficiency (PCD) and phenylketonuria (PKU). The five genes with the most common carrier frequencies were PAH (1:42), PRODH (1:51), MMACHC (1:52), SLC25A13 (1:55) and SLC22A5 (1:63). Our study showed that NBS combined with NGS and MS/MS improves the performance of screening methods, optimizes the process, and provides accurate diagnoses. Full article
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15 pages, 5031 KiB  
Article
Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows
by Katherine Raboin, Debra Ellis, Ginger Nichols, Marcia Hughes, Michael Brimacombe and Karen Rubin
Int. J. Neonatal Screen. 2024, 10(2), 27; https://doi.org/10.3390/ijns10020027 - 25 Mar 2024
Viewed by 781
Abstract
The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS patients. After launching the LTFU registry in 2019, the [...] Read more.
The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS patients. After launching the LTFU registry in 2019, the Network obtained funding from the Health Resources and Services Administration to address the slow adoption by specialty care teams. An LTFU model was implemented in the three highest-volume specialty care teams at Connecticut Children’s, involving an early childhood cohort diagnosed with an NBS-identified disorder since the formation of the Network in March 2019. This cohort grew from 87 to 115 over the two-year project. Methods included optimizing registries, capturing external data from Health Information Exchanges, incorporating evidence-based guidelines, and conducting qualitative and quantitative evaluations. The early childhood cohort demonstrated significant and sustainable improvements in the percentage of visits up-to-date (%UTD) compared to the non-intervention legacy cohort of patients diagnosed with an NBS disorder before the formation of the Network. Positive trends in the early childhood cohort, including %UTD for visits and condition-specific performance metrics, were observed. The qualitative evaluation highlighted the achievability of practice behavior changes for specialty care teams through responsive support from the nurse analyst. The Network’s model serves as a use case for applying and achieving the adoption of population health tools within an EHR system to track care delivery and quickly fill identified care gaps, with the aim of improving long-term health for NBS patients. Full article
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