Newborn Screening
Newborn Screening plays a critical role in early detection of genetic, metabolic, endocrine, and sensory conditions that may not be clinically visible at birth but can cause severe disability or death if untreated. This session provides a comprehensive understanding of how population-level screening programmes identify conditions early, improve survival, and support long-term developmental outcomes. With rapid advancements in technology, expanded screening panels, and evolving public-health policies, newborn screening remains a cornerstone of early-life preventive care.
Healthcare leaders, clinicians, and policymakers often attend a Neonatology Conference to stay updated on new screening tests, quality-control strategies, molecular technologies, and follow-up systems. This session explores traditional dried-blood-spot testing, point-of-care screening for critical congenital heart disease, newborn hearing screening, and ongoing integration of genomic sequencing. Participants will learn how early diagnosis of conditions such as congenital hypothyroidism, metabolic disorders, hemoglobinopathies, cystic fibrosis, or immunodeficiencies can dramatically shift outcomes across childhood.
A central focus is building pediatric newborn screening pathways that include timely specimen collection, transport logistics, laboratory accuracy, reporting timelines, and structured follow-up with specialist services. Case-based narratives illustrate the emotional and clinical impacts of false positives, borderline results, actionable findings, and incidental discoveries. Participants will also explore equitable access to screening, cultural considerations, family education, and disparities in follow-up services.
Ethical issues are integrated throughout the session, including informed consent models, data security, re-contact policies, and communication of genetic information that may affect family planning. Attendees will examine how to support families with empathy during uncertain or stressful screening outcomes, ensuring clarity, reassurance, and culturally appropriate guidance. By the end, participants will be prepared to evaluate screening effectiveness, advocate for expanded panels where appropriate, and strengthen newborn screening systems across diverse healthcare environments.
Ready to Share Your Research?
Submit Your Abstract Here →Core Themes in Newborn Screening
Fundamentals of screening science
- Understanding sensitivity, specificity, and predictive value of newborn screening tools.
- Exploring how laboratory techniques influence accuracy and turnaround time.
Conditions included in screening panels
- Reviewing metabolic, endocrine, hematologic, and immunologic disorders commonly screened.
- Recognising how early intervention alters developmental trajectories.
Interpreting and managing results
- Communicating results clearly with families and referring providers.
- Understanding false positives, urgent referrals, and confirmatory testing.
Global screening variability
- Exploring differences in national panels, resources, and follow-up infrastructure.
- Identifying strategies to improve access in underserved regions.
Practice Insights and Programme Implementation
Designing newborn screening pathways
Structuring workflows for specimen collection, lab processes, and rapid communication.
Strengthening parent communication
Providing sensitive education during stressful or uncertain results.
Integrating specialists and early-intervention teams
Ensuring seamless referral to endocrinology, genetics, metabolic services, and support programmes.
Monitoring programme quality
Using audits, tracking metrics, and continuous improvement strategies.
Ethical challenges in genomic expansion
Balancing early detection with concerns of privacy, consent, and data longevity.
Related Sessions You May Like
Join the Global Pediatrics, Neonatology & Child Health Community
Connect with leading pediatricians, neonatologists, child-health researchers, and multidisciplinary healthcare teams from around the world. Share clinical and translational research and gain practical insights into neonatal intensive care, child development, immunization, nutrition, and integrated strategies to improve outcomes for children.