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Neonatal Screening in Europe: On the Brink of a New Era

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A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (1 April 2024) | Viewed by 34339

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Prof. Dr. Jim R. Bonham

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Department of Clinical Chemistry, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK
Interests: quality assurance; inherited metabolic disorders; genomics; IT supporting patients; system governance
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Maurizio Scarpa

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Regional Coordinating Center for Rare Diseases, European Reference Network for Hereditary Metabolic Diseases (MetabERN), Udine University Hospital, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy
Interests: inherited metabolic diseases (IMDs); lysosomal storage disorders (LSD); newborn screening; gene therapy; artificial intelligence
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Dr. Peter C. J. I. Schielen

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Office of the International Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands
Interests: (neonatal screening in) Europe; (neonatal screening and) the Wilson and Jungner criteria; lysosomal storage diseases; application of next generation sequencing in neonatal screening; inherited errors of metabolism; tandem mass spectrometry; genomics; artificial intelligence in neonatal screening; cystic fibrosis; screening policies and governance; quality assurance
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

It seems that European collaboration on neonatal screening has gained momentum in recent years, with three international conferences on European neonatal screening this autumn. We would like to use that momentum to present the IJNS Special Issue ‘Neonatal screening in Europe: on the brink of a new era’. This Special Issue focuses on contributions dealing with European policies (disease-specific), European patient organisations (disease-specific), biobanking and registries, laboratories, and clinical and diagnostic collaborations. The common denominator should be cross-European border collaboration, so we expect contributions to be submitted by several or many European co-authors. Scientific manuscripts, opinions and reviews are welcomed.

Prof. Dr. Jim R. Bonham
Prof. Dr. Maurizio Scarpa
Dr. Peter C.J.I. Schielen
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

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Published Papers (9 papers)

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14 pages, 1297 KiB

Open AccessArticle

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS

by Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca, Hugo Rocha and Laura Vilarinho

Int. J. Neonatal Screen. 2024, 10(1), 25; https://doi.org/10.3390/ijns10010025 - 20 Mar 2024

Cited by 1 | Viewed by 2237

Abstract

The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs). The study’s purpose is to assess the epidemiology of the screened metabolic diseases and to evaluate the impact of second-tier testing (2TT) within the PNSP. From 2004 to 2022, 1,764,830 neonates underwent screening using tandem mass spectrometry (MS/MS) to analyze amino acids and acylcarnitines in dried blood spot samples. 2TT was applied when necessary. Neonates with profiles indicating an IEM were reported to a reference treatment center, and subsequent biochemical and molecular studies were conducted for diagnostic confirmation. Among the screened neonates, 677 patients of IEM were identified, yielding an estimated birth prevalence of 1:2607 neonates. The introduction of 2TT significantly reduced false positives for various disorders, and 59 maternal cases were also detected. This study underscores the transformative role of MS/MS in neonatal screening, emphasizing the positive impact of 2TT in enhancing sensitivity, specificity, and positive predictive value. Our data highlight the efficiency and robustness of neonatal screening for IEM in Portugal, contributing to early and life-changing diagnoses. Full article

(This article belongs to the Special Issue Neonatal Screening in Europe: On the Brink of a New Era)

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11 pages, 1124 KiB

Open AccessArticle

History of Neonatal Screening of Congenital Hypothyroidism in Portugal

by Maria José Costeira, Patrício Costa, Susana Roque, Ivone Carvalho, Laura Vilarinho and Joana Almeida Palha

Int. J. Neonatal Screen. 2024, 10(1), 16; https://doi.org/10.3390/ijns10010016 - 20 Feb 2024

Cited by 2 | Viewed by 1784

Abstract

Congenital hypothyroidism (CH) leads to growth and development delays and is preventable with early treatment. Neonatal screening for CH was initiated in Portugal in 1981. This study examines the history of CH screening in the country. Data were obtained from annual reports and from the national database of neonatal screening laboratory. The CH screening strategy primarily relies on the thyroid-stimulating hormone (TSH), followed by total thyroxine measurement as the second tier for confirmation. The TSH cutoff started at 90 mIU/L, decreasing to the actual 10 mIU/L. The coverage of the screening program has increased rapidly; although voluntary, it reached about 90% in 6 years and became universal in 10 years. Guideline and cutoff updates led to the identification of over 200 additional cases, resulting in specific retesting protocols for preterm and very-low-birth-weight babies. The actual decision tree considers CH when TSH levels are above 40 mIU/L. Data from the CH screening also provide an indication of the iodine status of the population, which is presently indicative of iodine insufficiency. The Portuguese neonatal screening for CH is a history of success. It has rapidly and continuously adapted to changes in knowledge and has become a universal voluntary practice within a few years. Full article

(This article belongs to the Special Issue Neonatal Screening in Europe: On the Brink of a New Era)

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14 pages, 297 KiB

Open AccessArticle

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina and Alberto B. Burlina

Int. J. Neonatal Screen. 2024, 10(1), 3; https://doi.org/10.3390/ijns10010003 - 25 Dec 2023

Cited by 3 | Viewed by 2308

Abstract

In the last two decades, the development of high-throughput diagnostic methods and the availability of effective treatments have increased the interest in newborn screening for lysosomal storage disorders. However, long-term follow-up experience is needed to clearly identify risks, benefits and challenges. We report our 8-year experience of screening and follow-up on about 250,000 neonates screened for four lysosomal storage diseases (Pompe disease, mucopolysaccharidosis type I, Fabry disease, Gaucher disease), using the enzyme activity assay by tandem mass spectrometry, and biomarker quantification as a second-tier test. Among the 126 positive newborns (0.051%), 51 infants were confirmed as affected (positive predictive value 40%), with an overall incidence of 1:4874. Of these, three patients with infantile-onset Pompe disease, two with neonatal-onset Gaucher disease and four with mucopolysaccharidosis type I were immediately treated. Furthermore, another four Gaucher disease patients needed treatment in the first years of life. Our study demonstrates the feasibility and effectiveness of newborn screening for lysosomal storage diseases. Early diagnosis and treatment allow the achievement of better patient outcomes. Challenges such as false-positive rates, the diagnosis of variants of uncertain significance or late-onset forms and the lack of treatment for neuronopathic forms, should be addressed. Full article

(This article belongs to the Special Issue Neonatal Screening in Europe: On the Brink of a New Era)

12 pages, 950 KiB

Open AccessArticle

Universal Newborn Hearing Screening Program: 10-Year Outcome and Follow-Up from a Screening Center in Germany

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

Int. J. Neonatal Screen. 2023, 9(4), 61; https://doi.org/10.3390/ijns9040061 - 23 Oct 2023

Cited by 1 | Viewed by 1916

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. Full article

(This article belongs to the Special Issue Neonatal Screening in Europe: On the Brink of a New Era)

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12 pages, 1240 KiB

Open AccessArticle

Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals

by 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 and Rumen Stefanov

Int. J. Neonatal Screen. 2023, 9(4), 57; https://doi.org/10.3390/ijns9040057 - 11 Oct 2023

Cited by 1 | Viewed by 1989

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. Full article

(This article belongs to the Special Issue Neonatal Screening in Europe: On the Brink of a New Era)

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20 pages, 1246 KiB

Open AccessArticle

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

by 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 and Francjan J. van Spronsen Show full author list Hide full author list

Int. J. Neonatal Screen. 2023, 9(4), 56; https://doi.org/10.3390/ijns9040056 - 11 Oct 2023

Cited by 2 | Viewed by 1762

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. Full article

(This article belongs to the Special Issue Neonatal Screening in Europe: On the Brink of a New Era)

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9 pages, 879 KiB

Open AccessArticle

A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain)

by 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 and Ana B. Pérez-Oliva

Int. J. Neonatal Screen. 2023, 9(4), 55; https://doi.org/10.3390/ijns9040055 - 10 Oct 2023

Cited by 2 | Viewed by 1900

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. Full article

(This article belongs to the Special Issue Neonatal Screening in Europe: On the Brink of a New Era)

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Review

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11 pages, 264 KiB

Open AccessReview

Towards Achieving Equity and Innovation in Newborn Screening across Europe

by Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen and James R. Bonham

Int. J. Neonatal Screen. 2022, 8(2), 31; https://doi.org/10.3390/ijns8020031 - 6 May 2022

Cited by 22 | Viewed by 6740

Abstract

Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if untreated, result in a low quality of life, disability and even premature death. Newborn screening (NBS) has the potential to detect a number of rare conditions in asymptomatic children, providing the possibility of early treatment and a significantly improved long-term outcome. Despite these clear benefits, the availability and conduct of NBS programmes varies considerably across Europe and, with the increasing potential of genomic testing, it is likely that these differences may become even more pronounced. To help improve the equity of provision of NBS and ensure that all children can be offered high-quality screening regardless of race, nationality and socio-economic status, a technical meeting, endorsed by the Slovenian Presidency of the Council of the European Union, was held in October 2021. In this article, we present experiences from individual EU countries, stakeholder initiatives and the meeting’s final conclusions, which can help countries attempting to establish new NBS programmes or expand existing provision. Full article

(This article belongs to the Special Issue Neonatal Screening in Europe: On the Brink of a New Era)

Other

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13 pages, 294 KiB

Open AccessCommentary

Newborn Screening by Genomic Sequencing: Opportunities and Challenges

by David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey and Richard H. Scott

Int. J. Neonatal Screen. 2022, 8(3), 40; https://doi.org/10.3390/ijns8030040 - 15 Jul 2022

Cited by 35 | Viewed by 11702

Abstract

Newborn screening for treatable disorders is one of the great public health success stories of the twentieth century worldwide. This commentary examines the potential use of a new technology, next generation sequencing, in newborn screening through the lens of the Wilson and Jungner criteria. Each of the ten criteria are examined to show how they might be applied by programmes using genomic sequencing as a screening tool. While there are obvious advantages to a method that can examine all disease-causing genes in a single assay at an ever-diminishing cost, implementation of genomic sequencing at scale presents numerous challenges, some which are intrinsic to screening for rare disease and some specifically linked to genomics-led screening. In addition to questions specific to routine screening considerations, the ethical, communication, data management, legal, and social implications of genomic screening programmes require consideration. Full article

(This article belongs to the Special Issue Neonatal Screening in Europe: On the Brink of a New Era)

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