Newborn screening is a public health effort that has changed the prognosis of some congenital diseases. Newborn screening programmes differ between countries in which it is organized. Demographic, epidemiological or economic factors play a role in the choice of the screening panel. In the French Community of Belgium, the programme focuses on 13 metabolic and endocrine diseases, hearing loss and hemoglobinopathies (Brussels and Liege). Newborn screening is a complex process that requires the involvement of all stakeholders : parent information, blood sampling or testing, lab analysis, follow-up of the results, initiate adequate care in case of positive test and genetic counselling. Newborn screening programmes will evolve in the next years. New therapeutic and diagnostic methods will make other genetic diseases candidates for screening. Whole genome sequencing may be the next expansion; it will create new opportunities but will pose new ethical dilemmas. We must all prepare now for future challenges.
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Sex Transm Dis
November 2024
Keck School of Medicine Department of Population and Public Health Sciences, University of Southern California, California, USA.
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 PDFEndocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFLancet 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 PDFCureus
December 2024
Pediatric Cardiology, Centro Hospitalar Lisboa Central, Unidade Local de Saúde de São José, Lisbon, PRT.
Long QT Syndrome (LQTS) is a rare hereditary canalopathy, characterized by prolonged ventricular repolarization, which can lead to malignant tachyarrhythmias at a young age. Treatment typically involves healthy lifestyle changes and β-blocker therapy. In specific cases, the implantation of an implantable cardioverter defibrillator (ICD) can be an option.
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