Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies

Dear Colleagues,

We are excited to announce a Special Issue, titled "Global neonatal screening: expanding horizons in diagnostic technologies", which aims to explore the current landscape and future advancements of neonatal screening around the world.

While newborn bloodspot screening (NBS) has been a cornerstone of neonatal care, detecting a variety of conditions shortly after birth, its application and scope vary significantly worldwide. Globally, over 40 million babies receive NBS each year, yet coverage and the spectrum of disorders screened for remain limited, especially in low-resource settings.

This Special Issue seeks to explore the multifaceted dimensions of neonatal screening, encompassing not only well-established bloodspot tests but also emerging technologies and methodologies that are shaping the future of neonatal care. With the advent of genomic sequencing and other molecular diagnostic tools, the potential for the early detection of a broader array of conditions has surged, thereby promising a new era of neonatal medicine. However, these advancements also bring forth challenges in implementation, ethical considerations, and the necessity for robust, universally accepted diagnostic criteria.

We invite contributions that address a wide array of topics, which include but are not limited to the following:

• Comparative analyses of neonatal screening programs across different countries and their outcomes.
• The integration of genomic testing and other advanced diagnostic technologies into routine neonatal screening.
• Ethical, legal, and social implications of expanding neonatal screening, especially regarding genetic testing.
• Strategies to enhance the accessibility and effectiveness of neonatal screening in low-resource environments.
• The role of international collaboration in standardizing neonatal screening practices and policies.
• Evaluating the impact of neonatal screening on long-term health outcomes and healthcare systems.
• Consumer perspectives and the inclusion of parental input in shaping neonatal screening policies.
• Case studies on the implementation of innovative neonatal diagnostic technologies and their outcomes.

Our goal is to foster a comprehensive discourse on the evolution of neonatal screening, thus highlighting innovative practices, addressing challenges, and envisioning the future of early detection in neonatal care. Contributions from a range of disciplines and geographical regions are encouraged to provide a holistic view of the global status and prospects of neonatal screening.

We look forward to your contributions to this important and dynamic field of neonatal health. In this Special Issue, original research articles and reviews are welcome.

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 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.

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