Neonatal screening programmes have been introduced in almost all European countries. In practice there are large differences, especially in the panel of conditions that are screened for, often without clear reasons. Policy making on a European level is lacking in contrast to the situation in the USA. Professionals have the knowledge to expand the panels but are dependent on policy-makers for the necessary funds. This paper is a call on the EU Commission to take up a role in providing equal access to neonatal screening for all children within the EU.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510224 | PMC |
http://dx.doi.org/10.3390/ijns4040032 | DOI Listing |
Clin Chem
January 2025
Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States.
Background: Newborn hearing screening is a physiologic screen to identify infants who may be deaf or hard of hearing (DHH) and would benefit from early intervention. Typically, an infant who does not pass the newborn hearing screen is referred for clinical audiology testing, which may be followed by genetic testing to identify the etiology of an infant's DHH.
Content: The current newborn hearing screening paradigm can miss mild cases of DHH or later-onset DHH, leaving a child at risk for unrecognized DHH, which could impact long-term language, communication, and social development.
Clin Chem
January 2025
Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.
Background: Newborn screening is a public health system designed to identify infants at risk for conditions early in life to facilitate timely intervention and treatment to prevent or mitigate adverse health outcomes. Newborn screening programs use tandem mass spectrometry as a platform to detect several treatable inborn errors of metabolism, and the T-cell receptor excision circle assay to detect some inborn errors of the immune system. Recent advancements in DNA sequencing have decreased the cost of sequencing and allow us to consider DNA sequencing as an additional platform to complement other newborn screening methods.
View Article and Find Full Text PDFCureus
December 2024
Department of Midwifery, School of Health and Care Sciences, University of West Attica, Athens, GRC.
Maternal Graves' disease (GD) poses a significant risk to neonatal thyroid function due to the transplacental transfer of thyrotropin receptor antibodies (TRAbs). This systematic review aims to assess the impact of maternal GD on neonatal thyroid outcomes and identify key maternal factors influencing these outcomes. A comprehensive literature search was conducted across PubMed, Scopus, and Cochrane, resulting in the inclusion of 18 studies published from 2014 to 2024.
View Article and Find Full Text PDFIn this case report, we describe a successful unplanned vaginal breech birth (VBB) for a primigravid woman who presented to the hospital in labor. This woman transferred to our hospital from an attempted home birth and was highly motivated to achieve a vaginal birth. The staff were recently trained on the provision of physiologic breech birth support, and after receiving informed consent, they facilitated a successful VBB.
View Article and Find Full Text PDFBr J Biomed Sci
January 2025
St. John's Dermatopathology Laboratory, Synnovis Analytics, St. Thomas' Hospital, London, United Kingdom.
Skin disorders pose a significant health burden globally, affecting millions of individuals across diverse demographics. Advancements in molecular techniques have revolutionised our understanding of the underlying mechanisms of skin disorders, offering insights into their pathogenesis, diagnosis, and potential targeted treatment. Furthermore, the integration of molecular diagnostics into clinical practice has enhanced the accuracy of skin disorder diagnoses.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!