Special Issue "Neonatal Screening in Australia: Current Status and Future Development"

A special issue of Pediatric Reports (ISSN 2036-7503).

Deadline for manuscript submissions: 10 September 2024 | Viewed by 545

Special Issue Editor

Dr. Victoria Kain
E-Mail Website
Guest Editor
Associate Professor, School of Nursing and Midwifery, Griffith University, Brisbane, QLD 4111, Australia
Interests: neonatal and perinatal palliative care; neonatal resuscitation in low- and middle-income countries; newborn screening; neonatal abstinence syndrome

Special Issue Information

Dear Colleagues,

This Special issue focuses on neonatal screening in Australia to explore its current status and determine future developments. 

More than 99 percent of newborns in Australia undergo newborn bloodspot screening. This means that over 300,000 infants are screened annually. Recently, the Australian Government committed AUD 39.0 million over four years to expand newborn bloodspot screening (NBS) to include more conditions and ensure consistency, initiating a consultation process to inform the expansion of NBS. Since the 1960s, newborn screening has been implemented in most developed nations, with more than 40 million babies receiving some form of newborn blood spot screening annually. However, only about 30 percent of newborns receive screening for readily treatable disorders. There is interest in expanding the benefits of appropriate neonatal screening if it can be conducted in an ethical, safe, and cost-effective manner in healthcare settings with limited resources and treatment access. New developments in screening technology, such as primary genomic testing, have a great deal of potential, but they must not undermine public confidence or current endeavors to develop acceptable and effective screening programmes. As we increasingly detect patients with greater phenotypic heterogeneity, the clarity of case definitions based on agreed-upon confirmatory testing becomes increasingly crucial.

Suggested themes include, but are not limited to, exploring the feasibility of an expert advisory group to provide informed and unbiased advice and support health policymakers at a national level; enablers for effective health policy development to inform political representatives, while recognizing and respecting national autonomy; a review of evidence to identify new conditions for assessment; opportunities for consumer input on expanding NBS screenings in Australia; and how we can ensure that the NBS screening is fit for purpose, timely, and robust.

In this Special Issue, original research articles and reviews are welcome.

I look forward to receiving your contributions.

Dr. Victoria Kain
Guest Editor

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. Pediatric Reports 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 1400 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.


  • newborn screening
  • NBS
  • neonatal screening
  • next-generation sequencing
  • expanded NBS program
  • DNA sequencing

Published Papers

This special issue is now open for submission.
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