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Pediatric Reports
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Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies
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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 6176

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,

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 semimonthly 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.

Keywords

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

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Published Papers (5 papers)

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Research

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12 pages, 904 KiB  
Article
Comparison and Optimization of DNA Extraction Methods for Human DNA from Dried Blood Spot Samples
by Natalja Van Biesen, Piet Cools and Eline Meyers
Pediatr. Rep. 2025, 17(2), 30; https://doi.org/10.3390/pediatric17020030 - 4 Mar 2025
Viewed by 1018
Abstract
Background/Objectives: DNA extraction from dried blood spot (DBS) samples is often applied in neonatal screening programs. Although various methods to extract DNA from DBSs have been described, the optimal approach remains unclear. Therefore, this study aimed to compare and optimize extraction methods to [...] Read more.
Background/Objectives: DNA extraction from dried blood spot (DBS) samples is often applied in neonatal screening programs. Although various methods to extract DNA from DBSs have been described, the optimal approach remains unclear. Therefore, this study aimed to compare and optimize extraction methods to establish a reliable and efficient protocol for human DNA extraction from DBSs. Methods: We conducted a back-to-back comparison of five different DNA extraction methods on 20 DBS samples: three column-based kits (QIAamp DNA mini kit, High Pure PCR Template Preparation kit, DNeasy Blood & Tissue kit) and two in-house boiling methods (one using TE buffer, one using Chelex-100 resin). DNA recovery was measured with DeNovix DS-11 and ACTB qPCR. Further optimization of elution volumes and starting material was performed on the best-performing methods (sample size = 5). Additionally, T-cell receptor excision circle (TREC) DNA was assessed by qPCR as an application. Results: The Chelex boiling method yielded significantly (p < 0.0001) higher ACTB DNA concentrations compared to the other methods. Column-based methods showed low DNA recovery, except for Roche, which showed significantly (p < 0.0001) higher DNA concentrations than the other column-based methods, as measured by DeNovix DS-11. Decreasing elution volumes (150 vs. 100 vs. 50 µL) increased ACTB DNA concentrations significantly, while increasing starting material (two vs. one 6 mm spot) did not. Conclusions: We identified an easy and cost-effective optimized DNA extraction method using Chelex from DBSs, with an elution volume of 50 µL and 1 × 6 mm DBS punch, which is particularly advantageous for research in low-resource settings and large populations, such as neonatal screening programs. Full article
(This article belongs to the Special Issue Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies)
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15 pages, 1519 KiB  
Article
Energy Utilization in Premature Neonates Undergoing Screening for Retinopathy of Prematurity
by Alena M. Pentecost, Danilo S. Boskovic, Alexis Antimo, Udochukwu Oyoyo, Christopher C. Perry, Jennifer Dunbar, Andrew Hopper and Danilyn M. Angeles
Pediatr. Rep. 2025, 17(2), 29; https://doi.org/10.3390/pediatric17020029 - 3 Mar 2025
Viewed by 762
Abstract
Background/Objectives: Premature neonates are at risk for retinopathy of prematurity (ROP) and routinely undergo screening exams that involve substantial physical manipulation, often causing significant signs of pain, despite pain-relieving interventions. It remains unclear whether these exams affect energy utilization, cellular hypoxia, and clinically [...] Read more.
Background/Objectives: Premature neonates are at risk for retinopathy of prematurity (ROP) and routinely undergo screening exams that involve substantial physical manipulation, often causing significant signs of pain, despite pain-relieving interventions. It remains unclear whether these exams affect energy utilization, cellular hypoxia, and clinically significant events, and whether receiving supplemental oxygen affects these relationships. This work examines the effects of ROP screening on (1) urinary uric acid-to-creatinine concentration ratios ([UA]/[Cr]), a known marker of ATP degradation, hypoxia, and oxidative stress; and (2) clinically significant events (apnea, bradycardia, gastric residuals, and oxygen desaturations) in premature neonates on room air or oxygen support. Methods: This prospective pilot study included premature neonates requiring ROP screening examinations at Loma Linda University’s NICU. Urinary [UA]/[Cr], measured by high-performance liquid chromatography, and clinical events, documented by prospective medical chart review, were analyzed pre- and post-exam in subjects on room air (n = 18) or on oxygen support (n = 20). Statistical analyses included a generalized linear mixed model for urinary [UA]/[Cr] and Wilcoxon signed rank tests for clinical events. Results: A significant time effect (p = 0.010) was observed for urinary [UA]/[Cr], with higher levels at 0–12 (p = 0.023) and 12–24 (p = 0.023) hours post-exam. Subjects receiving oxygen support had more total (p = 0.028) and more severe (p = 0.026) oxygen desaturations. Conclusions: ROP examinations may increase energy utilization in premature neonates, with those receiving oxygen support being particularly susceptible to oxygen desaturations post-exam. Further research is needed to clarify the full impact of the procedure and to identify strategies to minimize stress associated with these screening examinations. Full article
(This article belongs to the Special Issue Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies)
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12 pages, 966 KiB  
Article
Prospective Evaluation of Pulse Oximetry Screening for Critical Congenital Heart Disease in a Jordanian Tertiary Hospital: High Incidence and Early Detection Challenges
by Naser Aldain A. Abu Lehyah, Abeer A. Hasan, Mahmoud Y. Abbad, Razan A. Al-Jammal, Moath K. Al Tarawneh, Dima Abu Nasrieh, Haneen A. Banihani, Saif N. Aburumman, Areen G. Fraijat, Heba M. Alhawamdeh, Qasem A. Shersheer, Milad Kh. Al-Awawdeh, Scott O. Guthrie and Joseph R. Starnes
Pediatr. Rep. 2025, 17(1), 23; https://doi.org/10.3390/pediatric17010023 - 15 Feb 2025
Viewed by 807
Abstract
Background/Objectives: Critical congenital heart disease (CCHD) is among the major causes of global neonatal morbidity and mortality. While the incidence of CCHD appears to vary across populations, much of this variation may stem from differences in detection and reporting capabilities rather than true [...] Read more.
Background/Objectives: Critical congenital heart disease (CCHD) is among the major causes of global neonatal morbidity and mortality. While the incidence of CCHD appears to vary across populations, much of this variation may stem from differences in detection and reporting capabilities rather than true prevalence. In Jordan, recent data revealed a congenital cardiac disease incidence of 17.8/1000 live births, much higher than international averages. Diagnosis is largely dependent upon echocardiography, which is difficult to obtain in low-resource settings where prenatal screening modalities are limited. Screening for CCHD with pulse oximetry offers a potential method to identify patients earlier and contribute to improved outcomes. Methods: This prospective cohort study evaluated 20,482 neonates screened using pulse oximetry at Al-Bashir Hospital between January 2022 and May 2024. Demographic data, pulse oximetry measurements, and echocardiogram findings were collected during the screening process after obtaining ethical approval from the Jordanian Ministry of Health. Results: Pulse oximetry screening identified 752 neonates (3.7%) requiring further evaluation by echocardiography. An abnormality was detected in 240 neonates (31.9%), which included cardiac anomalies and pulmonary hypertension. Screening led to the identification of 138 infants with CCHD, including 80 with a previously unknown diagnosis, and an additional 247 infants with conditions requiring increased monitoring or treatment. Among those with CCHD, hypoplastic left heart syndrome and Tetralogy of Fallot were the most common conditions, 3.1%, and 2.4%, respectively. The overall false positive rate was 1.8% and was higher among those screened at less than 24 h of life compared to those screened at or after 24 h of life (2.3% [95%CI 2.1–2.6] vs. 0.8% [95%CI 0.6–1.0], p < 0.001). Conclusions: Pulse oximetry screening successfully led to the early detection of CCHD among Jordanian neonates. There was a high prevalence of CCHD compared to other reported cohorts. This highlights the importance of implementing national screening protocols to improve early diagnosis and intervention. Future studies will inform the feasibility and cost-effectiveness of national implementation in this setting. Full article
(This article belongs to the Special Issue Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies)
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Review

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15 pages, 539 KiB  
Review
Reducing Neonatal Mortality in Nepal’s Remote Regions: A Narrative Review of Challenges, Disparities, and the Role of Helping Babies Breathe (HBB)
by Victoria Jane Kain, Ranjan Dhungana and Animesh Dhungana
Pediatr. Rep. 2025, 17(2), 48; https://doi.org/10.3390/pediatric17020048 - 17 Apr 2025
Viewed by 377
Abstract
Background: Nepal’s diverse geography creates significant challenges for healthcare accessibility, particularly for neonatal care. Rural areas, especially in the mountainous regions, face severe healthcare gaps due to isolation, inadequate infrastructure, and a shortage of skilled staff. Strengthening healthcare in these underserved regions is [...] Read more.
Background: Nepal’s diverse geography creates significant challenges for healthcare accessibility, particularly for neonatal care. Rural areas, especially in the mountainous regions, face severe healthcare gaps due to isolation, inadequate infrastructure, and a shortage of skilled staff. Strengthening healthcare in these underserved regions is essential to reducing neonatal mortality. Helping Babies Breathe (HBB) is a neonatal resuscitation training program designed to reduce neonatal mortality due to birth asphyxia in low-resource settings. Methods: A comprehensive literature search identified studies on neonatal mortality and interventions, particularly HBB, which were analyzed using a narrative synthesis approach. This review examines disparities in neonatal health outcomes, regional differences, and barriers to healthcare access. Findings: This review identifies key themes related to healthcare disparities, neonatal mortality, and birth outcomes in Nepal’s remote regions. Geographical isolation, inadequate healthcare infrastructure, and cultural barriers contribute to persistently high neonatal mortality, particularly in mountainous areas such as Jumla and Dolpa, where rates exceed 60 per 1000 live births. HBB has shown a significant impact, reducing neonatal mortality by up to 60% when effectively implemented. However, infrastructural gaps, lack of emergency transport, and the uneven distribution of skilled birth attendants (SBAs) remain critical challenges. Addressing these disparities requires expanded training, increased availability of neonatal resuscitation equipment, and culturally sensitive healthcare strategies. Full article
(This article belongs to the Special Issue Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies)
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Other

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7 pages, 2360 KiB  
Case Report
Case Report of a Neonate with Complex Gastroschisis: A Multidisciplinary Approach
by Palanikumar Balasundaram, Timothy B. Lautz, Rhonda Gale and Kimberly G. Remedios-Smith
Pediatr. Rep. 2024, 16(3), 779-785; https://doi.org/10.3390/pediatric16030065 - 9 Sep 2024
Viewed by 1550
Abstract
Gastroschisis is a congenital anomaly characterized by herniation of abdominal contents via a defect in the anterior abdominal wall. Gastroschisis can manifest as simple or complex, with additional complications such as atresia, perforation, ischemia, necrosis, or volvulus. While prenatal screening and advancements in [...] Read more.
Gastroschisis is a congenital anomaly characterized by herniation of abdominal contents via a defect in the anterior abdominal wall. Gastroschisis can manifest as simple or complex, with additional complications such as atresia, perforation, ischemia, necrosis, or volvulus. While prenatal screening and advancements in surgical techniques have improved outcomes, infants with complex gastroschisis cases pose significant challenges in neonatal care. Vanishing gastroschisis, a rare but dreaded complication with a mortality rate ranging from 10 to 70%, occurs when the abdominal wall closes around the herniated bowel, leading to strangulation. We present a case report focusing on the management of neonatal gastroschisis in a 36-week-old female infant with vanishing gastroschisis. The infant’s clinical course, including surgical interventions, complications, and multidisciplinary management, is discussed in detail. This case underscores the importance of a multidisciplinary approach in optimizing outcomes for infants with complex gastroschisis. Via this case report, we aim to provide insights into the complexities of neonatal gastroschisis management and advocate for a collaborative approach involving neonatology, pediatric surgery, infectious disease, and palliative care to improve outcomes and quality of life for affected infants. Full article
(This article belongs to the Special Issue Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies)
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