Read "Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study" by De Felipe, B. et al. 🔗 #SpinalMuscularAtrophy #SMA #SCID #NewbornScreening #GeneticTesting #EarlyDetection #Immunodeficiency

Read "Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population" by Rodrigues, D. et al. 🔗 #NewbornScreening #SickleCellDisease #CapillaryElectrophoresis #NBS

Read new article published by Torkar, A. D. et al. here: #MTPdeficiency #MTPD #LCHADdeficiency #LCHADD #fattyacidoxidationdisorder #FAOD #suddeninfantdeath #newbornscreening #NBS

Read "The Training and Evaluation of the “Dual-Index” Screening Method for Neonatal Congenital Heart Disease: A Multi-Center Study in China" by Huang, P. et al. 🔗 #congenitalheartdisease #dualindexmethod #newbornscreening #NBS

Read "Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community" by Berzal-Serrano, A. et al. 🔗 #spinalmuscularatrophy #SMN1 #newbornscreening #driedbloodspot #NBS #IJNS

Read "Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity" by Klippel, C. et al. 🔗 #adenosinedeaminasedeficiency #newbornscreening #proteomics #peptide #NBS

Read "Maternity Care Providers’ Experiences with Providing Information on Newborn Bloodspot Screening During Pregnancy: A Dutch Survey Study" by Klapwijk, J. E. et al. 🔗 #neonatalscreening #NBS #questionnaire #attitudes #pregnancy #guidance #maternity

Read "Development, Validation, and Application of the Paya Hamsan Technologies Underivatized Newborn Screening Assay (PHUNSA) for Inborn Metabolic Disorders in Dried Blood Spot Samples from Iranian Infants" by Khodadadi, A. et al. 🔗 #newbornscreening

The editorial team at International Journal of Neonatal Screening extends our heartfelt thanks to the dedicated reviewers whose expertise and commitment have been key to the journal's success in 2024. 🔗

📖 We invite you to read the article "Parent Reports of Developmental Service Utilization After Newborn Screening" by Reynolds, E. et al. #newbornscreening #earlyintervention #developmentalservices #developmentaldelays #severecombinedimmunodeficiencies

We invite you to read the conference report "Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific—2024" by Therrell, B. L. et al. 🔗 #newbornscreening #AsiaPacific #bloodspot #NBS #DBS

Read new article "Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability" by Veldman, A. et al. 🔗 #inheritedmetabolicdisease #inbornerrorsofmetabolism #newbornscreening

📣IJNS invites you to read new paper published "Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1" by Zaunseder, E. et al. #artificialintelligence #datamining #neonatalscreening 🔗

RT @RareEpilepsy: Join our partners at AGENDA (Alliance for Genetic Etiologies in NeuroDevelopmental Disorders and Autism) at their meeting…

RT @Info_Rares: This health economic analysis demonstrates that newborn screening for Metachromatic Leukodystrophy is cost-effective and su…

RT @CheckRare: CME Program: Can Ficicioglu, MD, PhD, Orna Staretz-Chacham, MD, Debra Regier, MD, and David Kronn, MD discuss Newborn Screen…

RT @ShihchengGuo: Genome-based newborn screening shows promise, but a study with 53,855 variants linked to 412 severe diseases found 74% of…

RT @ISNSNeonatal: Registration for the next ISNS European meeting - 'Newborn screening LIVE from the heart of Europe' - Luxembourg, 23-26…

RT @KaradutaMD: 🔍 What drives a pioneer? Dr. David Millington reveals the inspiration behind his journey in mass spectrometry & newborn sc…

RT @JAMA_current: Can genome sequencing improve newborn screening? A recent JAMA article reports preliminary findings from the GUARDIAN stu…