Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies
A special issue of Pediatric Reports (ISSN 2036-7503). This special issue belongs to the section "Inborn Errors and Neonatal Screening".
Deadline for manuscript submissions: 30 September 2025 | Viewed by 2025
Special Issue Editor
Interests: neonatal and perinatal palliative care; neonatal resuscitation in low- and middle-income countries; newborn screening; neonatal abstinence syndrome
Special Issue Information
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
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Keywords
- newborn screening
- NBS
- neonatal screening
- next-generation sequencing
- expanded NBS program
- DNA sequencing
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