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Int. J. Neonatal Screen., Volume 4, Issue 3 (September 2018) – 9 articles

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Open AccessArticle
The Newborn Hearing Screening Programme in Germany
Int. J. Neonatal Screen. 2018, 4(3), 29; https://doi.org/10.3390/ijns4030029 - 16 Sep 2018
Cited by 2 | Viewed by 1257
Abstract
This article presents an overview of legal, methodological, organisational, financial, structural and technical aspects of the initial audiological measurement of newborns (screening), follow-up (diagnosis) and tracking the results (tracking) within the German newborn hearing screening programme. Full article
(This article belongs to the Special Issue Newborn Hearing Screening)
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Reliability of Neonatal Screening Results
Int. J. Neonatal Screen. 2018, 4(3), 28; https://doi.org/10.3390/ijns4030028 - 06 Sep 2018
Cited by 2 | Viewed by 1562
(This article belongs to the Special Issue Selected Papers from 11th ISNS European Regional Meeting)
Open AccessArticle
From Neonatal Hearing Screening to Intervention: Results of the Dutch Program for Neonatal Hearing Screening in Well Babies
Int. J. Neonatal Screen. 2018, 4(3), 27; https://doi.org/10.3390/ijns4030027 - 01 Aug 2018
Cited by 2 | Viewed by 1641
Abstract
In the Netherlands, Youth Health Care services (YHC) have been carrying out neonatal hearing screening (NHS) in newborns since 2006. The aim of the NHS is to identify children with permanent hearing loss, so that intervention can be started before the age of [...] Read more.
In the Netherlands, Youth Health Care services (YHC) have been carrying out neonatal hearing screening (NHS) in newborns since 2006. The aim of the NHS is to identify children with permanent hearing loss, so that intervention can be started before the age of 4 months. Early detection of hearing loss is important, as children who start intervention early have been shown to develop better. This article describes the structure and performance of the NHS carried out by the YHC, the quality of the program, and the timeliness of the start of intervention. Since its implementation, the NHS has been audited annually in order to monitor the program’s quality. Monitoring reports and data from the Dutch Foundation for the Deaf and Hard of Hearing Child were used in this study. For many years, results have shown the NHS to be a stable screening program of high quality. The participation rate is high, refer percentage low, and the timeliness of the program is continually improving. Although the timeliness of post screening diagnostics and intervention need most improvement as they do not always meet the target times, this has improved over recent years. Full article
(This article belongs to the Special Issue Newborn Hearing Screening)
Open AccessArticle
Newborn Hearing Screening in Bavaria—Is It Possible to Reach the Quality Parameters?
Int. J. Neonatal Screen. 2018, 4(3), 26; https://doi.org/10.3390/ijns4030026 - 24 Jul 2018
Cited by 1 | Viewed by 1269
Abstract
Since the 1 January, 2009, newborn hearing screening (NHS) has been obligatory for every child in Germany. NHS is part of the Pediatrics Directive of the Federal Joint Committee. In this directive, details of the procedures and screening quality to be achieved are [...] Read more.
Since the 1 January, 2009, newborn hearing screening (NHS) has been obligatory for every child in Germany. NHS is part of the Pediatrics Directive of the Federal Joint Committee. In this directive, details of the procedures and screening quality to be achieved are given. We evaluate if these quality criteria were met in Bavaria in 2016. The NHS data of children born in 2016 in Bavaria were evaluated for quality criteria, such as screening coverage in screening facilities, screening methods, referral rate (rate of failed tests at discharge) and a child’s age at the diagnosis of a hearing disorder. NHS was documented for 116,776 children born in Bavaria in 2016. In the first step, 78,904 newborns were screened with transient evoked otoacoustic emissions and 37,865 with automated auditory brainstem response. Of these, 9182 (7.8%) failed the first test in one or both ears. A second screening before discharge was performed on 53.3% of the newborns with a refer result in the first test, out of which 58.7% received a pass result. After the screening process, 4.6% of the newborns were discharged with a refer result. Only 18% of the first controls after discharge were performed by a pediatric audiologist. In 37.9% of the newborns, the screening center intervened to assure the control of any failed screening test. The median age of diagnosis for bilateral hearing loss was 5.3 months. In Bavaria, NHS was implemented successfully. A tracking system for all children who failed the hearing screening test is pivotal for early diagnosis and therapy of children with hearing deficiency. Full article
(This article belongs to the Special Issue Newborn Hearing Screening)
Open AccessReview
What Contribution Did Economic Evidence Make to the Adoption of Universal Newborn Hearing Screening Policies in the United States?
Int. J. Neonatal Screen. 2018, 4(3), 25; https://doi.org/10.3390/ijns4030025 - 20 Jul 2018
Cited by 2 | Viewed by 1796
Abstract
Universal newborn hearing screening (UNHS), when accompanied by timely access to intervention services, can improve language outcomes for children born deaf or hard of hearing (D/HH) and result in economic benefits to society. Early Hearing Detection and Intervention (EHDI) programs promote UNHS and [...] Read more.
Universal newborn hearing screening (UNHS), when accompanied by timely access to intervention services, can improve language outcomes for children born deaf or hard of hearing (D/HH) and result in economic benefits to society. Early Hearing Detection and Intervention (EHDI) programs promote UNHS and using information systems support access to follow-up diagnostic and early intervention services so that infants can be screened no later than 1 month of age, with those who do not pass their screen receiving diagnostic evaluation no later than 3 months of age, and those with diagnosed hearing loss receiving intervention services no later than 6 months of age. In this paper, we first document the rapid roll-out of UNHS/EHDI policies and programs at the national and state/territorial levels in the United States between 1997 and 2005. We then review cost analyses and economic arguments that were made in advancing those policies in the United States. Finally, we examine evidence on language and educational outcomes that pertain to the economic benefits of UNHS/EHDI. In conclusion, although formal cost-effectiveness analyses do not appear to have played a decisive role, informal economic assessments of costs and benefits appear to have contributed to the adoption of UNHS policies in the United States. Full article
(This article belongs to the Special Issue Newborn Hearing Screening)
Open AccessReview
Current State of the Art of Newborn Screening for Lysosomal Storage Disorders
Int. J. Neonatal Screen. 2018, 4(3), 24; https://doi.org/10.3390/ijns4030024 - 18 Jul 2018
Cited by 6 | Viewed by 2463
Abstract
Prospective full-population newborn screening for multiple lysosomal storage disorders (LSDs) is currently practiced in a few NBS programs, and several others are actively pursuing this course of action. Two platforms suitable for multiple LSD screening—tandem mass spectrometry (MS/MS) and digital microfluidic fluorometry (DMF)—are [...] Read more.
Prospective full-population newborn screening for multiple lysosomal storage disorders (LSDs) is currently practiced in a few NBS programs, and several others are actively pursuing this course of action. Two platforms suitable for multiple LSD screening—tandem mass spectrometry (MS/MS) and digital microfluidic fluorometry (DMF)—are now commercially available with reagent kits. In this article, we review the methods currently used for prospective NBS for LSDs and objectively compare their workflows and the results from two programs in the United States that screen for the same four LSDs, one using MS/MS and the other DMF. The results show that the DMF platform workflow is simpler and generates results faster than MS/MS, enabling results reporting on the same day as specimen analysis. Furthermore, the performance metrics for both platforms while not identical, are broadly similar and do not indicate the superior performance of one method over the other. Results show a preponderance of inconclusive results for Pompe and Fabry diseases and for Hurler syndrome, due to genetic heterogeneity and other factors that can lead to low enzyme activities, regardless of the screening method. We conclude that either platform is a good choice but caution that post-analytical tools will need to be applied to improve the positive predictive value for these conditions. Full article
(This article belongs to the Special Issue Newborn Screening for Lysosomal Storage Disorders)
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Open AccessArticle
Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools
Int. J. Neonatal Screen. 2018, 4(3), 23; https://doi.org/10.3390/ijns4030023 - 09 Jul 2018
Cited by 23 | Viewed by 1710
Abstract
All of the worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is done by measurement of lysosomal enzymatic activities in dried blood spots (DBS). Substrates used for these assays are discussed. While the positive predictive value (PPV) is the gold standard for [...] Read more.
All of the worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is done by measurement of lysosomal enzymatic activities in dried blood spots (DBS). Substrates used for these assays are discussed. While the positive predictive value (PPV) is the gold standard for evaluating medical tests, current PPVs for NBS of LSDs cannot be used as a performance metric due to statistical sampling errors and uncertainty in the onset of disease symptoms. Instead, we consider the rate of screen positives as the only currently reliable way to compare LSD NBS results across labs worldwide. It has been suggested that the expression of enzymatic activity data as multiple-of-the-mean is a way to normalize datasets obtained using different assay platforms, so that results can be compared, and universal cutoffs can be developed. We show that this is often not the case, and normalization is currently not feasible. We summarize the recent use of pattern matching statistical analysis together with measurement of an expanded group of enzymatic activities and biomarkers to greatly reduce the number of false positives for NBS of LSDs. We provide data to show that these post-enzymatic activity assay methods are more powerful than genotype analysis for the stratification of NBS for LSDs. Full article
(This article belongs to the Special Issue Newborn Screening for Lysosomal Storage Disorders)
Open AccessArticle
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies
Int. J. Neonatal Screen. 2018, 4(3), 22; https://doi.org/10.3390/ijns4030022 - 29 Jun 2018
Cited by 7 | Viewed by 1881
Abstract
Newborn screening (NBS) for cystic fibrosis (CF) has been shown to be advantageous for children with CF, and has thus been included in most NBS programs using various algorithms. With this study, we intend to establish the most appropriate algorithm for CF-NBS in [...] Read more.
Newborn screening (NBS) for cystic fibrosis (CF) has been shown to be advantageous for children with CF, and has thus been included in most NBS programs using various algorithms. With this study, we intend to establish the most appropriate algorithm for CF-NBS in the Portuguese population, to determine the incidence, and to contribute to elucidating the genetic epidemiology of CF in Portugal. This was a nationwide three-year pilot study including 255,000 newborns (NB) that were also screened for congenital hypothyroidism (CH) and 24 other metabolic disorders included in the Portuguese screening program. Most samples were collected in local health centers spread all over the country, between the 3rd and 6th days of life. The algorithm tested includes immunoreactive trypsinogen (IRT) determination, pancreatitis associated protein (PAP) as a second tier, and genetic study for cases referred to specialized clinical centers. Thirty-four CF cases were confirmed positive, thus indicating an incidence of 1:7500 NB. The p.F508del mutation was found in 79% of the alleles. According to the results presented here, CF-NBS is recommended to be included in the Portuguese NBS panel with a small adjustment regarding the PAP cut-off, which we expect to contribute to the improvement of the CF-NBS performance. According to our results, this algorithm is a valuable alternative for CF-NBS in populations with stringent rules for genetic studies. Full article
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Open AccessReview
Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?
Int. J. Neonatal Screen. 2018, 4(3), 21; https://doi.org/10.3390/ijns4030021 - 27 Jun 2018
Cited by 2 | Viewed by 1351
Abstract
Newborn screening for several lysosomal disorders can now be accomplished successfully for case finding. However, many cases identified do not require immediate intervention and it is not yet clear, for some disorders, if there is a benefit in early diagnosis for those cases, [...] Read more.
Newborn screening for several lysosomal disorders can now be accomplished successfully for case finding. However, many cases identified do not require immediate intervention and it is not yet clear, for some disorders, if there is a benefit in early diagnosis for those cases, or what should be called a benefit. Diagnosing adult-onset cases, especially when there are quite imperfect genotype-phenotype correlations, represents a significant expansion of what has heretofore been considered the aim of newborn screening. This mission creep should be carefully discussed, and certain aspects of newborn screening strengthened. We should all proceed with caution in this field. Full article
(This article belongs to the Special Issue Newborn Screening for Lysosomal Storage Disorders)
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