The scope of newborn screening (NBS) programs is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the "field of Public Health." These interventions are aimed at early detection of asymptomatic children affected by certain diseases, with the objective to establish a definitive diagnosis and apply the proper treatment to prevent further complications and sequelae and ensure a better quality of life. The most significant event in the history of neonatal screening was the discovery of phenylketonuria in 1934. This disease has been the paradigm of inherited metabolic diseases. The next paradigm was the introduction of tandem mass spectrometry in the NBS programs that make possible the simultaneous measurement of several metabolites and consequently, the detection of several diseases in one blood spot and in an unique analysis. We aim to review the current situation of neonatal screening in 2016 worldwide and show scientific evidence of the benefits for some diseases. We will also discuss future challenges. It should be taken into account that any consideration to expand an NBS panel should involve a rigorous process of decision-making that balances benefits against the risks of harm.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.spen.2016.11.001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prevention of Maternal Rh D Alloimmunization: A Comparative Review of Guidelines.
Obstet Gynecol Surv
December 2024
Associate Professor.
Importance: Rhesus alloimmunization refers to the sensitization of an Rh D-negative mother after exposure to D-positive fetal red blood cells, which can lead to significant fetal and neonatal morbidity and mortality.
Objective: The aim of this study was to review and compare the most recently published international guidelines on the prevention of maternal alloimmunization.
Evidence Acquisition: A comparative review of guidelines from the American College of Obstetricians and Gynecologists, the British Committee for Standards in Hematology, the International Federation of Gynecology and Obstetrics, the Royal Australian and New Zealand College of Obstetricians and Gynecologists, and the Society of Obstetricians and Gynecologists of Canada regarding the prevention of maternal Rh D alloimmunization was conducted.
Newborn screening in Brazil: realities and challenges.
J Community Genet
January 2025
Laboratório de Hormônios e Genética Molecular-LIM42, Disc de Endocrinologia do Hospital das Clínicas, da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program.
View Article and Find Full Text PDFVaginal colonization and vertical transmission of Candida species: prevalence and associated factors among pregnant women and their neonates at public health facilities of Northeast Ethiopia.
BMC Pregnancy Childbirth
January 2025
Department of Medical Laboratory Sciences, College of Medicine and Health Sciences, Bahir Dar University, Bahir Dar, Ethiopia.
Background: Vaginal colonization by Candida can lead to vulvovaginal candidiasis, which is the second most prevalent vaginal condition globally. It is frequently associated with sepsis and adverse neonatal outcomes in pregnant women. This issue is worsening in Sub-Saharan Africa, including Ethiopia.
View Article and Find Full Text PDFProtocol for the development of a guideline on post-extubation respiratory support for mechanically ventilated patients in the ICU.
BMJ Open
January 2025
Evidence based medicine center, Lanzhou University, Lanzhou, Gansu, China.
Unlabelled: Prophylactic respiratory support for patients after extubation is effective in improving their outcomes and prognosis. However, the optimal post-extubation respiratory support for different populations and disease types of mechanically ventilated patients remains controversial, and there is a lack of detailed, multidisciplinary, evidence-based recommendations for clinical application.
Methods And Analysis: This protocol strictly follows the development process outlined in the WHO Handbook for Guideline Development and Guidelines 2.
Balancing precision and affordability in assessing infant development in large-scale mortality trials: secondary analysis of a randomised controlled trial.
Arch Dis Child Fetal Neonatal Ed
January 2025
NHMRC Clinical Trials Centre, The University of Sydney, Camperdown, New South Wales, Australia.
Objective: Large-scale mortality trials require reliable secondary assessments of impairment. We compared the Ages and Stages Questionnaire (ASQ-3), a screening tool self-administered by parents, in classifying impairment using the 'gold standard' Bayley Scales of Infant Development (Bayley-III), a diagnostic tool administered by trained assessors.
Design: Analysis of 405 children around 2 years corrected age from the Australian Placental Transfusion Study, a trial conducted over 8 years.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!