Unlabelled: BACKGROUND AND OBJECTIVE: Untreated spinal muscular atrophy (SMA) is the leading genetic cause of death in children younger than 2 years of age. Early detection through newborn screening allows for presymptomatic diagnosis and treatment of SMA. With effective treatments available and reimbursed by the National Health Service, many regions in Italy are implementing newborn screening for SMA. We evaluated the cost effectiveness of universal newborn screening for SMA in Italy.
Methods: A decision-analytic model assessed the cost effectiveness of newborn screening from the National Health Service perspective in 400,000 newborns. Newborn screening enabling early identification and presymptomatic treatment of SMA was compared with no newborn screening, symptomatic diagnosis, and treatment. Transition probabilities between health states were estimated from clinical trial data. Higher-functioning health states were associated with increased survival, higher utility values, and lower costs. Long-term survival and utilities were extrapolated from scientific literature. Health care costs were collected from official Italian sources. A lifetime time horizon was applied, and costs and outcomes were discounted at an annual rate of 3%. Deterministic and probabilistic sensitivity analyses were conducted.
Results: Newborn screening followed by presymptomatic treatment yielded 324 incremental life-years, 390 incremental quality-adjusted life-years, and reduced costs by €1,513,375 over a lifetime time horizon compared with no newborn screening. Thus, newborn screening was less costly and more effective than no newborn screening. Newborn screening has a 100% probability of being cost effective, assuming a willingness-to-pay threshold of > €40,000.
Conclusions: Newborn screening followed by presymptomatic SMA treatment is cost effective from the Italian National Health Service perspective.
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http://dx.doi.org/10.1007/s40261-024-01386-8 | DOI Listing |
Genet Test Mol Biomarkers
January 2025
PTC Therapeutics Germany GmbH, Frankfurt, Germany.
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.
View Article and Find Full Text PDFCureus
December 2024
Paediatrics, Maternity and Children Hospital, AlAhsa, SAU.
Background Maternal diabetes mellitus (DM) is a known risk factor for congenital heart diseases (CHDs), which are of significant concern to infants born to diabetic mothers. Compared to newborns born to non-diabetic mothers, infants born to diabetic mothers had a higher overall risk of developing congenital malformations. This association has a complex pathophysiology that includes genetic predispositions, metabolic abnormalities, and environmental factors during key stages of fetal development.
View Article and Find Full Text PDFFront Public Health
January 2025
Center of Excellence for Sickle Cell Disease Research and Training (CESRTA), University of Abuja, Abuja, Nigeria.
Introduction: Newborn Screening (NBS) is a public health program designed to identify and provide early interventions for infants with genetic disorders such as Sickle Cell Disease (SCD). Lack of awareness and unwillingness to participate in the NBS by caregivers and some healthcare workers are major contributing factors impeding NBS for SCD.
Objective: To evaluate the level of awareness and acceptance of NBS for SCD and the determinant factors influencing caregivers in Gwagwalada Area Council of the Federal Capital Territory, Abuja, Nigeria.
BMC Infect Dis
January 2025
Department of Obstetrics and Gynecology, Taixing People's Hospital, No.1, Changzheng Road, Taixing, Jiangsu, 225400, China.
Background: Group B Streptococcus (GBS) colonization is one of the major causes of severe neonatal infections. The study was intended to identify GBS colonization in pregnant women, explore its potential risk factors, and analyze the impact of GBS on outcomes for both mothers and newborns.
Material And Methods: A retrospective research was carried out on pregnant women who had undergone GBS screening and delivered from June 2020 to December 2022.
Acta Paediatr
January 2025
Department of Women's and Children's Health, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska Institutet/Karolinska University Hospital, Stockholm, Sweden.
Aim: To investigate fasting metabolism in children with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD) using microdialysis technique.
Methods: Twelve patients (7 with VLCADD, 5 with MCADD, mean age 4.9 years, 10/12 diagnosed via newborn screening) were recruited for investigation in connection to clinical fasting examinations at the Karolinska University Hospital (between 2015 and 2024).
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