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Disseminating scientific excellence
Newborn Screening (NBS) for cystic fibrosis (CF) was introduced in Switzerland in 2011 based on an immunoreactive trypsinogen (IRT)-DNA-IRT protocol. CF diagnosis was confirmed by sweat test and/or genetics but remained inconclusive for some newborns (cystic fibrosis transmembrane conductance reg...
Read morePhenylketonuria (PKU) is hyperphenylalaninemia that develops due to a deficiency of the phenylalanine hydroxylase enzyme (PAH). Identification of variants in the PAH gene is necessary for verification of the diagnosis, choice of treatment tactics, detection of heterozygous carriers. The aim of the...
Read moreThe present study aimed to investigate the dynamic changes in respiratory pathogens in children during 2020. For this, a retrospective cohort study was performed at a tertiary hospital in southern Taiwan during 2020. Patients aged 0 - 18 years who visited the pediatric emergency department were en...
Read moreNewborn screening (NBS) for congenital hypothyroidism (CH) started in the 1970s, with the introduction of radioimmunoassays (RIA) for the measurement of thyroxine (T4), and thyroid stimulating hormone (TSH). With the development of sensitive enzyme immune assays (EIA, FIA, FEIA), RIAs were replace...
Read moreCongenital adrenal hyperplasia (CAH) is one of the life-threatening disorders in neonates. The term CAH refers to a group of autosomal recessive disorders that result from impaired steroidogenesis in the adrenal cortex. A total of 158,486 neonates were screened for CAH from 2015 to 2020 in Lithuan...
Read moreThe recent surge in the diagnoses of congenital hypothyroidism (CH) has necessitated the measurement of newborn TSH levels and an understanding of the way various antenatal and perinatal factors influence its dynamicity. It is a cross-sectional study on newborns delivered or admitted to the All In...
Read moreThe aim of this study was to investigate and report potential improvements in the screening protocol that is currently applied in Romania in order to reduce the time between birth and treatment initiation in newborns positive for congenital hypothyroidism screening. Blood samples were collected (C...
Read moreNewborn Screening (NBS) is considered the need of the hour for quality health in neonates. It is also important to understand that the rising trend of prevalence of inherited metabolic disorders and the various maternal factors that might influence genetic changes in the foetus in-utero affecting ...
Read moreNewborn Screening (NBS) has been one of the most successful health programs and of most paramount importance worldwide but not so in India. Due to the lack of awareness and paucity of laboratory facilities, the disease burden in our population has not yet been established. The aim and objective of...
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