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International Journal of Neonatal Screening, Volume 4, Issue 3

2018 September - 9 articles

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Articles (9)

  • Article
  • Open Access
13 Citations
5,878 Views
12 Pages

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...

(This article belongs to the Special Issue Newborn Hearing Screening)
  • Article
  • Open Access
8 Citations
5,891 Views
8 Pages

From Neonatal Hearing Screening to Intervention: Results of the Dutch Program for Neonatal Hearing Screening in Well Babies

  • Noëlle Uilenburg,
  • Catharina Van der Ploeg,
  • Rosanne Van der Zee,
  • Anneke Meuwese-Jongejeugd and
  • Bert Van Zanten

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 th...

(This article belongs to the Special Issue Newborn Hearing Screening)
  • Article
  • Open Access
10 Citations
4,401 Views
7 Pages

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 b...

(This article belongs to the Special Issue Newborn Hearing Screening)
  • Review
  • Open Access
13 Citations
7,594 Views
15 Pages

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...

(This article belongs to the Special Issue Newborn Hearing Screening)
  • Review
  • Open Access
25 Citations
8,040 Views
11 Pages

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 screen...

(This article belongs to the Special Issue Newborn Screening for Lysosomal Storage Disorders)
  • Article
  • Open Access
59 Citations
6,947 Views
15 Pages

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 valu...

(This article belongs to the Special Issue Newborn Screening for Lysosomal Storage Disorders)
  • Article
  • Open Access
23 Citations
7,057 Views
11 Pages

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies

  • Ana Marcão,
  • Celeste Barreto,
  • Luísa Pereira,
  • Luísa Guedes Vaz and ,
  • José Cavaco,
  • Ana Casimiro,
  • Miguel Félix,
  • Teresa Reis Silva,
  • Telma Barbosa and
  • Laura Vilarinho
  • + 10 authors+ 5 authors

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...

  • Review
  • Open Access
6 Citations
3,926 Views
6 Pages

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...

(This article belongs to the Special Issue Newborn Screening for Lysosomal Storage Disorders)
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Int. J. Neonatal Screen. - ISSN 2409-515X