This study utilized the integrated theoretical model (ITM) to assess strategies to ameliorate screening for sickle hemoglobinopathies in the age of genomic medicine. Also discussed, is the relevance of predictive, preventive, personalized and participatory interventions. Comparison was made between universal and targeted screening. The international guidelines for neonatal screening were reiter...

BACKGROUND We examined the risk for Group B streptococcus (GBS)-related diseases in newborns born to mothers who participated in a universal GBS screening program and to determine whether differences are observed in factors affecting the morbidity for neonatal early-onset GBS-related diseases. METHODS This is a retrospective study and the study subjects were women who had undergone GBS screen...

BACKGROUND Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier screening flags both classic infantile and late-onset Pompe disease, which challenges current screening criteria. Previously, advocacy groups have sometimes supported expanded neona...

STUDY OBJECTIVE To estimate the net financial benefit of neonatal screening for phenylketonuria (PKU): by a simple pooling of cost data from the literature; and by a more complex modelling approach. DESIGN A systematic literature review was conducted to identify papers containing data on the monetary costs and benefits of neonatal screening for PKU. The methodological quality of the studies w...

AIMS A significant number of preventable cardiac deaths in infancy and childhood are due to long QT syndrome (LQTS) and to unrecognized neonatal congenital heart diseases (CHDs). Both carry a serious risk for avoidable mortality and morbidity but effective treatments exist to prevent lethal arrhythmias or to allow early surgical correction before death or irreversible cardiac damage. As an elec...

Aims A significant number of preventable cardiac deaths in infancy and childhood are due to long QT syndrome (LQTS) and to unrecognized neonatal congenital heart diseases (CHDs). Both carry a serious risk for avoidable mortality and morbidity but effective treatments exist to prevent lethal arrhythmias or to allow early surgical correction before death or irreversible cardiac damage. As an elec...

Background: Neonatal screening is a preventive medical measure to screen infants shortly after birth for treatable metabolic disorders and endocrinopathies. The present study aimed to evaluate and compare the accuracy of laboratory samples in the screening programs for metabolic diseases in Mashhad city, Iran with international guidelines.Methods: This observational study was conducted on all t...

Objective—To compare the cost eVectiveness of various strategies for neonatal hearing screening by estimating the cost per hearing impaired child detected. Design—Cost analyses with a simulation model, including a multivariate sensitivity analysis. Comparisons of the cost per child detected were made for: screening method (automated auditory brainstem response or otoacoustic emissions); number ...