BACKGROUND/AIM: Hearing impairment affects a small but significant percentage of newborns (0.1-0.4%). Newborn hearing screening (NHS) is recommended for early detection and treatment. The implementation of NHS can vary among countries. In this study, we present the methodology, organization, and technical requirements of NHS. This study analyzed results from a tertiary hospital, identified issues, and proposed solutions. PATIENTS AND METHODS: In the studied region, there are five maternity hospitals and a perinatal intensive care center and in 2020, there were 5,864 live births. Screening is performed at three levels. The first screening is conducted on the 2nd-3rd day of a newborn's life in a maternity hospital, the first rescreening on the 3rd-6th week at a relevant ENT department, and the second rescreening on the 3rd-6th month of life at the regional screening center where the central database is also held. RESULTS: In the studied region, 5,793 out of 5,864 (98.79%) newborns received NHS in 2020. Of these, 120 (2.07%) were tested positive on their first screening. Ninety-four patients (78.3%) of those attended the ENT department for a first rescreening. Thirty-four patients (0.59% of total) were tested positive again and referred to the regional screening center. Out of the 27 patients who attended the second rescreening, four (0.07% of the total) were ultimately diagnosed with hearing impairment. CONCLUSION: Our study found that newborn hearing screening (NHS) in our region achieved a high compliance rate of 98.8% for initial screenings in 2020. However, challenges remain in the rescreening process due to data management issues, inter-regional cooperation, and public awareness. The recent implementation of mandatory screenings, updated guidelines, and a centralized database is expected to enhance the effectiveness of NHS. Further research is needed to evaluate these improvements.

• Klíčová slova
• Newborn, hearing loss treatment, hearing screening,
• MeSH
• lidé MeSH
• nedoslýchavost * diagnóza   epidemiologie   MeSH
• novorozenec MeSH
• novorozenecký screening * metody   MeSH
• sluchové testy * metody   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: The aim of this study was to record the current status of newborn bloodspot screening (NBS) for CF across Europe and assess performance. METHODS: Survey of representatives of NBS for CF programmes across Europe. Performance was assessed through a framework developed in a previous exercise. RESULTS: In 2022, we identified 22 national and 34 regional programmes in Europe. Barriers to establishing NBS included cost and political inertia. Performance was assessed from 2019 data reported by 21 national and 21 regional programmes. All programmes employed different protocols, with IRT-DNA the most common strategy. Six national and 11 regional programmes did not use DNA analysis. CONCLUSIONS: Integrating DNA analysis into the NBS protocol improves PPV, but at the expense of increased carrier and CFSPID recognition. Some programmes employ strategies to mitigate these outcomes. Programmes should constantly strive to improve performance but large datasets are needed to assess outcomes reliably.

• Klíčová slova
• CFSPID, carriers, CFTR gene analysis, Cystic fibrosis, IRT, Newborn bloodspot screening, PAP,
• MeSH
• cystická fibróza * diagnóza   genetika   MeSH
• genetické testování * metody   MeSH
• lidé MeSH
• novorozenec MeSH
• novorozenecký screening metody   MeSH
• protein CFTR genetika   MeSH
• trypsinogen MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• protein CFTR MeSH
• trypsinogen MeSH

The importance of early detection of hearing impairment in newborns and children and the early rehabilitation of hearing disorder with hearing aid or cochlear implant was demonstrated in a number of papers. As a result, newborn hearing screening was introduced in many countries around the world. The incidence of congenital hearing impairment has been underestimated for a long time, empirically determined incidence was 1:1000 neonates. Thanks to newborn hearing screening was revealed that incidence of congenital hearing impairment is 3 times higher. One out of 300 newborns has profound hearing loss (deafness) and 1 in 300 newborns has mild to moderate hearing loss. Moreover, in 1 out of 300 children hearing impairment would develop before the age of 18. In the Czech Republic, the screening of all newborns is still systematical and multilevel conducted in only three regions (Moravskoslezský, Královéhradecký, Pardubický). In these regions, statistics as well as assessments of individual stages of screening are carried out. In other regions, records of the number of screened children, number of rescreened children and detailed statistics of hearing impairment is missing. The authors summarize the basic information about the importance of screening, the history of screening and its organization. Provided information is based on experience with the gradual introduction of screening over recent years in the regions in which they work. Newborn hearing screening should be organized in several stages (1 - screening at maternity hospitals, 2 - rescreening on collaborating otolaryngology/phoniatric workplaces and 3 - detailed hearing examination in centers in children whose screening was negative). The authors focus on problems related to the organization of screening and offer practical advice (e.g. implementation of screening coordinators). They consider it is essential to have statistical evidence of examination at all levels. Introducing of newborn hearing screening is not a short-term task but a long-term (many years) challenge.

• Klíčová slova
• newborn hearing screening - importance current state in the Czech Republic.,
• MeSH
• hluchota * diagnóza   MeSH
• lidé MeSH
• novorozenec MeSH
• novorozenecký screening * MeSH
• poruchy sluchu * diagnóza   MeSH
• sluchové testy MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

Initiation of newborn screening (NBS) programs in Europe dates back to the 1960s. One of the most recent expansions of NBS programs was the addition of severe combined immunodeficiency (SCID) based on detection of T-cell receptor excision circles (TRECs). In this review, we present an overview of the current situation in Europe. To avoid a biased overview based on only published results, a 37-item survey on TREC-based NBS was sent to representatives of 46 European countries. With a response rate of 83%, we collected data of 38 countries. Seventeen of the 38 European countries that have completed the survey have nationally or regionally implemented TREC-based NBS. The survey results emphasize similarities and differences as well as common practices and challenges in TREC-based NBS. Because TRECs are a general surrogate marker for severe T lymphocytopenia, conditions other than SCID are also identified. Therefore, the initial definition of the target disease as "SCID" might need to be reconsidered and extended to "SCID and severe T lymphocytopenia." Even though complete harmonization of TREC-based NBS programs across Europe will remain challenging, collaboration and close partnerships will help in the move toward universal TREC-based screening for all newborns, resulting in more infants with SCID and severe T lymphocytopenia being detected each year.

• Klíčová slova
• Europe, IEI, NBS, Newborn screening, SCID, TREC, inborn errors of immunity, severe T lymphocytopenia, severe combined immunodeficiency,
• MeSH
• lidé MeSH
• lymfopenie * diagnóza   epidemiologie   MeSH
• novorozenec MeSH
• novorozenecký screening * metody   MeSH
• receptory antigenů T-buněk genetika   MeSH
• T-lymfocyty * imunologie   MeSH
• těžká kombinovaná imunodeficience * diagnóza   epidemiologie   genetika   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Geografické názvy
• Evropa epidemiologie   MeSH
• Názvy látek
• receptory antigenů T-buněk MeSH

Knowledge about newborn screening (NBS) is an important factor for parents to make an informed decision about participation. In Europe, countries inform parents differently about their NBS program, potentially including different knowledge aspects in their information. The aim of this study was to assess twenty-six European parental information products and to analyze their knowledge aspects through a content analysis. The analyzed aspects were compared to a list of eight knowledge aspects from scientific literature. The list includes aspects important for parents' decision-making, such as the purpose of screening. The study showed that most of the eight knowledge aspects are included in NBS information products of the majority of countries. However, there were differences between countries, for example in the amount of detail and phrasing of the information. Additional relevant knowledge aspects have also been identified and are recommended to optimize information products, such as the handling of residual bloodspot samples. This study only assessed knowledge aspects in information products meant for printing, but many countries also use other communication methods, and the impact on knowledge of the delivery of the information needs further study. Preferences of parents on alternative communication methods need to be considered and evaluated on their effectiveness.

• Klíčová slova
• European information products, informed decision, knowledge aspects, newborn screening (NBS), parental information,
• Publikační typ
• časopisecké články MeSH

OBJECTIVES: Presymptomatic detection of patients with rare diseases (RD), defined by a population frequency less than 1 : 2,000, is the task of newborn screening (NBS). In the Czech Republic (CZ), currently eighteen RD are screened: phenylketonuria/hyperphenylalaninemia (PKU/HPA), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), very long chain acyl-CoA dehydrogenase deficiency (VLCADD), carnitine palmitoyl transferase I and II deficiency (CPTID, CPTIID), carnitine-acylcarnitine translocase deficiency (CACTD), maple syrup urine disease (MSUD), glutaric aciduria type I (GA I), isovaleryl-CoA dehydrogenase deficiency (IVA), argininemia (ARG), citrullinemia (CIT), biotinidase deficiency (BTD), cystathionine beta-synthase-deficient homocystinuria (CBSD HCU), and methylenetetrahydrofolate reductase deficiency homocystinuria (MTHFRD HCU). The aim was to analyze the prevalence of RD screened by NBS in CZ. METHODS: We examined the NBS programme in CZ from 1 January 2010 to 31 December 2017, which covered 888,891 neonates. Dried blood spots were primarily analyzed using fluorescence immuno-assay, tandem mass spectrometry and fluorimetry. RESULTS: The overall prevalence of RD among the neonate cohort was 1 : 1,043. Individually, 1 : 2,877 for CH, 1 : 5,521 for PKU/HPA, 1 : 6,536 for CF (1 : 5,887 including false negative patients), 1 : 12,520 for CAH, 1 : 22,222 for MCADD, 1 : 80,808 for LCHADD, 1 : 177,778 for GA I, 1 : 177,778 for IVA, 1 : 222,223 for VLCADD, 1 : 296,297 for MSUD, 1 : 8,638 for BTD, and 1 : 181,396 for CBSD HCU. CONCLUSIONS: The observed prevalence of RD, based on NBS, corresponds to that expected, more precisely it was higher for BTD and lower for MSUD, IVA, CBSD HCU, MCADD and VLCADD. Early detection of rare diseases by means of NBS is an effective secondary prevention tool.

• Klíčová slova
• Czech Republic, epidemiology, newborn screening, prevention, public health, rare disease,
• MeSH
• biologické markery krev   MeSH
• fluorometrie MeSH
• lidé MeSH
• novorozenec MeSH
• novorozenecký screening metody   MeSH
• tandemová hmotnostní spektrometrie MeSH
• vzácné nemoci krev   epidemiologie   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• biologické markery MeSH

Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have been implemented. The aim of the study was to obtain a global overview on the current situation and perspectives on SMA NBS. We conducted a survey and contacted experts from 152 countries, from which we gathered 87 responses. We identified 9 SMA NBS programs that have so far detected 288 newborns with SMA out of 3,674,277 newborns screened. Funding, screening methods, organisation, and consent process were variable between SMA NBS programs. Many respondents pointed the lack of cost/benefit data as a major obstacle to SMA NBS implementation. In the next four years, our data suggest a 24% coverage of newborns from countries where a disease-modifying drug is available and 8,5% coverage in countries with no diseases-modifying drugs. The annual proportion of newborns to be screened in the coming years is expected to increase steadily. The experts expressed a strong need for the implementation of SMA NBS as means to improve care for patients with SMA.

• Klíčová slova
• Newborn screening, Nusinersen, Onasemnogene abeparvovec, Pre-symptomatic, Risdiplam, Spinal muscular atrophy,
• MeSH
• lidé MeSH
• novorozenec MeSH
• novorozenecký screening trendy   MeSH
• průzkumy a dotazníky MeSH
• spinální svalová atrofie diagnóza   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: In cystic fibrosis newborn screening (CFNBS), immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) can be used as screening parameters. We evaluated the IRT×PAP product as second-tier parameter in CFNBS in newborns with elevated IRT. METHODS: Data on 410,111 screened newborns including 78 patients with classical cystic fibrosis (CF) from two European centers were retrospectively analyzed by discrimination analysis to identify a screening protocol with optimal cutoffs. We also studied differences in PAP measurement methods and the association of IRT and PAP with age. RESULTS: PAP values differed systematically between fluorometric and photometric assays. The IRT×PAP product showed better discrimination for classical CF than PAP only as second-tier screening parameter (p<0.001). In CF patients, IRT decreased while PAP values remained high over years. In newborns without CF, IRT decreased after birth over weeks while PAP increased within days. CONCLUSIONS: The IRT×PAP product performs well as second-tier cutoff parameter for CFNBS. Screening quality parameters depend on the analytic method and on age at blood collection.

• Klíčová slova
• Cutoff, Cystic fibrosis, Immunoreactive trypsinogen, Newborn screening, Pancreatitis-associated protein,
• MeSH
• chemické techniky analytické MeSH
• cystická fibróza * krev   diagnóza   MeSH
• lidé MeSH
• novorozenec MeSH
• novorozenecký screening metody   MeSH
• proteiny asociované s pankreatitidou analýza   MeSH
• retrospektivní studie MeSH
• senzitivita a specificita MeSH
• trypsinogen * analýza   imunologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• proteiny asociované s pankreatitidou MeSH
• trypsinogen * MeSH

INTRODUCTION: Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted in a lack of research and expertise in this field, especially regarding genetic newborn screening (gNBS). There is increasing recognition of the importance of incorporating patients' needs and general public perspectives into the shared decision-making process regarding gNBS. This study is part of the Innovative Medicine Initiative project Screen4Care which aims at shortening the diagnostic journey for RDs by accelerating diagnosis for patients living with RDs through gNBS and the use of digital technologies, such as artificial intelligence and machine learning. Our objective will be to assess expecting parent's perspectives, attitudes and preferences regarding gNBS for RDs in Italy and Germany. METHODS AND ANALYSIS: A mixed method approach will assess perspectives, attitudes and preferences of (1) expecting parents seeking genetic consultation and (2) 'healthy' expecting parents from the general population in two countries (Germany and Italy). Focus groups and interviews using the nominal group technique and ranking exercises will be performed (qualitative phase). The results will inform the treatment of attributes to be assessed via a survey and a discrete choice experiment (DCE). The total recruitment sample will be 2084 participants (approximatively 1000 participants in each country for the online survey). A combination of thematic qualitative and logit-based quantitative approaches will be used to analyse the results of the study. ETHICS AND DISSEMINATION: This study has been approved by the Erlangen University Ethics Committee (22-246_1-B), the Freiburg University Ethics Committee (23-1005 S1-AV) and clinical centres in Italy (University of FerraraCE: 357/2023/Oss/AOUFe and Hospedale Bambino Gesu: No.2997 of 2 November 2023, Prot. No. _902) and approved for data storage and handling at the Uppsala University (2022-05806-01). The dissemination of the results will be ensured via scientific journal publication (open access).

• Klíčová slova
• GENETICS, Patient Participation, Patient Reported Outcome Measures, Patient-Centered Care, QUALITATIVE RESEARCH,
• MeSH
• lidé MeSH
• novorozenec MeSH
• novorozenecký screening * MeSH
• pacientova volba * MeSH
• umělá inteligence MeSH
• vzácné nemoci diagnóza   genetika   MeSH
• zjišťování skupinových postojů MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

AIM: Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening. METHODS: An international working group was established to discuss ways to improve the early diagnosis of mucopolysaccharidosis type I. It consisted of 13 experts in paediatrics, rare diseases and inherited metabolic diseases from Europe and the Middle East. RESULTS: It is becoming increasingly clearer that the delay between symptom onset and clinical diagnosis is considerable for mucopolysaccharidosis type I and other rare lysosomal storage disorders, despite numerous awareness campaigns since therapies became available. Diagnosis currently depends on recognising the signs and symptoms of the disease. The practice of newborn screening, which is being explored by pilot programmes around the world, enables early diagnosis and consequently early treatment. However, these studies have highlighted numerous new problems and pitfalls that must be faced before newborn screening becomes generally available. CONCLUSION: Newborn screening for mucopolysaccharidosis type I offers the potential for early diagnosis and early pre-symptomatic treatment, but existing hurdles need to be overcome.

• Klíčová slova
• Enzyme replacement therapy, Haematopoietic stem cell transplant, Laronidase, Lysosomal storage disorder, Mucopolysaccharidosis type I,
• MeSH
• lidé MeSH
• mukopolysacharidóza I diagnóza   MeSH
• novorozenec MeSH
• novorozenecký screening * MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH