The concept of neonatal screening for metabolic disorders was launched by Robert Guthrie in 1963. A filter paper blood sample and a cheap and rapid analytical technique were factors that paved the road to success. Mass screening for phenylketonuria soon started to spread. Various additional screening procedures for other metabolic or endocrine conditions were subsequently developed. Most of developed countries have set up systematic neonatal screening programs and million of babies are screened each year. This review presents the main milestones of the fantastic history of neonatal screening but also the questions risen by many temptations to extend the screening to other disorders which not necessarily fulfil classic criteria for systematic search. Ethical and health economical aspects will be the most important issues for the development of neonatal screening in the next millennium.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.
Clin Rev Allergy Immunol
January 2025
Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.
View Article and Find Full Text PDFCost-effectiveness of integrated maternal HIV, syphilis, and hepatitis B screening opt-out strategies in Nepal: a modelling study.
Lancet Reg Health Southeast Asia
January 2025
Institute for Global Health, University College London, London, United Kingdom.
Background: The World Health Organisation (WHO) developed a comprehensive framework encouraging an integrated approach to achieve triple elimination of vertical transmission of HIV, syphilis, and hepatitis B in Asia. Current screening practices in Nepal show significantly lower coverage for syphilis and hepatitis B compared to HIV suggesting potential for integration. In this study, we aimed to model the cost-effectiveness of triple screening during antenatal care in Nepal.
View Article and Find Full Text PDFAutomated Quantification of Retinopathy of Prematurity Stage via Ultrawidefield OCT.
Ophthalmol Sci
November 2024
Casey Eye Institute, Oregon Health and Science University, Portland, Oregon.
Purpose: Retinopathy of prematurity (ROP) stage is defined by the visual appearance of the vascular-avascular border, which reflects a spectrum of pathologic neurovascular tissue (NVT). Previous work demonstrated that the thickness of the ridge lesion, measured using OCT, corresponds to higher clinical diagnosis of stage. This study evaluates whether the volume of anomalous NVT (ANVTV), defined as abnormal tissue protruding from the regular contour of the retina, can be measured automatically using deep learning to develop quantitative OCT-based biomarkers in ROP.
View Article and Find Full Text PDFPrenatal ultrasound for the diagnosis of the cerebellar abnormalities: a meta-analysis.
J Matern Fetal Neonatal Med
December 2025
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Objective: Fetal cerebellar abnormalities are associated with neurodevelopmental disorders and structural brain malformations. Accurate and early diagnosis is crucial for prenatal counseling and planning postnatal interventions. While prenatal ultrasound is a key tool for detecting fetal brain abnormalities, variations in diagnostic accuracy across studies necessitate a systematic evaluation of its effectiveness in diagnosing cerebellar abnormalities.
View Article and Find Full Text PDFPredictive coding and attention in developmental cognitive neuroscience and perspectives for neurodevelopmental disorders.
Dev Cogn Neurosci
January 2025
Normandie Univ, UNICAEN, INSERM, COMETE, GIP CYCERON, Caen 14000, France. Electronic address:
Sensory prediction and repetition suppression are closely related cognitive mechanisms that allow the brain to form predictions about the environment, and guide perception in synergy with attention. Predictive coding is a theory of the fundamental role of predictive mechanisms in brain functions. Authors have proposed a central role of predictive impairments in autism and possibly other neurodevelopmental disorders.
View Article and Find Full Text PDFWant 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!