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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: closed (31 January 2026) | Viewed by 25592

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Dr. Victoria Kain

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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

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Keywords

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

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Published Papers (8 papers)

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Research

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9 pages, 695 KB

Open AccessArticle

Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency and Risk of Hyperbilirubinemia Among Newborns: A Tertiary Center Experience from Western Saudi Arabia

by Rogaya AlShugair, Mansour Al-Qurashi, Ahmad Mustafa, Mohammad Y. Alhindi, Abrar Ahmed, Hend AlNajjar, Mona AlDabbagh, Ashraf Sahafi, Hashim Almarzouki, Nabila A. AlRashdi, Eman A. AlThobaiti and Syed Sameer Aga

Pediatr. Rep. 2026, 18(2), 59; https://doi.org/10.3390/pediatric18020059 - 15 Apr 2026

Viewed by 505

Abstract

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is among the most common inherited enzymatic disorders worldwide and is an important risk factor for neonatal hyperbilirubinemia. Regional data from Western Saudi Arabia based on universal newborn screening remain limited. Objectives: To determine the prevalence of G6PD deficiency among newborns delivered at a tertiary center in Jeddah, Saudi Arabia, and to evaluate its association with clinically relevant outcomes, including early-onset jaundice (<24 h), need for phototherapy, admission for hyperbilirubinemia management, and readmission after discharge. Methods: We conducted a retrospective cohort study at King Abdulaziz Medical City, Western Region, Jeddah, Saudi Arabia, between January 2020 and May 2025. Cord blood samples from live-born infants were screened using a qualitative fluorescent spot test. Demographic variables (sex, gestational age, birth weight) and jaundice-related outcomes were extracted from the electronic medical record. Categorical variables were compared using chi-square testing, with p < 0.05 considered statistically significant. Results: Among 14,964 screened newborns, 489 were identified as G6PD deficient, yielding a prevalence of 3.3%. Prevalence was higher in males than in females (5.6% vs. 0.9%). Among the G6PD-deficient infants, early-onset jaundice occurred in 17.2%, phototherapy was required in 36.0%, and 16.5% were admitted for hyperbilirubinemia management. Readmission for worsening jaundice requiring phototherapy occurred in 11.0%, and no exchange transfusions were required. Compared with term infants, late preterm infants had higher rates of early-onset jaundice (11/49, 22.4% vs. 73/440, 16.6%) and phototherapy use (22/49, 45.0% vs. 154/440, 35.0%) (p < 0.01). Conclusions: G6PD deficiency was identified in a substantial proportion of newborns in this large screened cohort and was associated with clinically significant jaundice-related outcomes, particularly among late preterm infants. These findings underscore the importance of universal screening and structured postnatal follow-up to reduce the risk of severe hyperbilirubinemia and its complications. Early identification of G6PD-deficient infants should be accompanied by careful bilirubin monitoring, clear discharge planning, and timely post-discharge follow-up, especially for those born late preterm. Full article

(This article belongs to the Special Issue Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies)

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20 pages, 4364 KB

Open AccessArticle

Patterns of Segmental Strain of the Left Ventricle in Extremely Premature Infants

by Tatiana Chumarnaya, Evgeniya Gusarova, Natalya Kosovtsova, Svetlana Koltashova and Olga Solovyova

Pediatr. Rep. 2025, 17(6), 126; https://doi.org/10.3390/pediatric17060126 - 1 Dec 2025

Viewed by 540

Abstract

Extremely premature newborns are predisposed to cardiovascular complications due to a number of factors, including myocardial immaturity, hemodynamic changes, and iatrogenic effects. There are few studies on myocardial strain in extremely premature infants during the early neonatal period. The objective of study was to assess the left ventricular (LV) segmental strain in extremely premature newborns during the early neonatal period by employing speckle-tracking echocardiography (STE). This prospective study examined 65 newborns with no signs of hemodynamic impairment during the first 72 h of life. The cohort had a range of birth weights (600–1500 g) and gestational ages (24–35 weeks). The peak strain in 18 LV segments during systole (peak S and time to peak S), and throughout the cardiac cycle (peak G and time to peak G), and during early systolic pre-stretch (peak P and time to peak P) were assessed in the longitudinal, circumferential, and radial directions. We obtained percentile tables of segmental strain characteristics in the longitudinal, circumferential, and radial directions. No dependence of segmental strain on the birth weight, gestational age, or arterial duct closure was found. A positive gradient of the longitudinal strain magnitude was observed from the base to the apex. The highest circumferential and radial strain were observed in LV septum. This study is the first to register and compare the longitudinal, circumferential, and radial LV strain using STE in extremely premature infants with no signs of hemodynamic disturbances during the first 72 h of life. Reference values for segmental strain were established. Full article

(This article belongs to the Special Issue Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies)

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12 pages, 904 KB

Open AccessArticle

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

Cited by 9 | Viewed by 7555

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 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 KB

Open AccessArticle

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

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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 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 KB

Open AccessArticle

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

Cited by 1 | Viewed by 5050

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 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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17 pages, 596 KB

Open AccessReview

Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives

by Albina Tummolo, Emanuela Ponzi, Simonetta Simonetti and Mattia Gentile

Pediatr. Rep. 2026, 18(1), 14; https://doi.org/10.3390/pediatric18010014 - 19 Jan 2026

Cited by 3 | Viewed by 1426 | Correction

Abstract

In recent years, the development of new diagnostic technologies, such as tandem mass spectrometry (MS/MS) and next-generation sequencing (NGS), has caused a veritable revolution in the diagnosis of genetic diseases, reducing time, cost, and invasiveness associated with prior diagnostic techniques. While MS/MS laid the foundation for the development of numerous, usually institutionally based, neonatal screening programs, NGS has gained traction in newborn screening (NBS), primarily through pilot projects and private funding across different countries. As a result, the traditional Wilson and Jungner criteria have been supplemented by additional criteria, including considerations of equity and access, in response to emerging technologies. This review aims to provide an up-to-date overview of the global landscape of metabolic screening panels, highlight the major ongoing genomic screening projects, and outline the current models for integrating these two screening systems. Substantial differences exist across countries in the numbers and types of diseases included in national NBS programmes. In this context, Italy represents a prominent case, as its neonatal screening framework has seen significant expansion and development in recent years, reaching a particularly comprehensive metabolic screening panel. Nonetheless, a number of initiatives to incorporate genomic technologies into the NBS pathway are currently underway, primarily involving high-income countries. Nonetheless, unlike metabolomic-based NBS programs, no country has a government-mandated NGS program as first-tier testing for newborns. New evidence is emerging from ongoing models of integration of multi-omics approaches into NBS, including the use of AI and machine learning. Identifying the most appropriate system for this integration to reduce the false-positive and false-negative rates associated with both screening types, ensure more equitable access to screening, and facilitate faster access to treatment may represent a useful and foresightful way to conceptualize NBS in the future. This transitional phase should promote rigorous improvements before full-scale adoption. Full article

(This article belongs to the Special Issue Global Neonatal Screening: Expanding Horizons in Diagnostic Technologies)

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15 pages, 539 KB

Open AccessReview

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 2188

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 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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7 pages, 2360 KB

Open AccessCase 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

Cited by 3 | Viewed by 4239

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 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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