Newborn genetic screening is to be expanded in England this week, and will now include testing for maple syrup urine disease, isovaleric acidaemia, gluaric aciduria type 1 and homocystinuria, states the BMJ . These conditions are already being screened for in about half of England, due to ...
Ok! (HealthDay)—A set of screening tests designed to detect four rare metabolic disorders in newborns has been approved by the U.S. Food and Drug Administration. The "Seeker" system of diagnostics is designed to screen for Mucopolysaccharidosis Type 1, Pompe, Gaucher and Fabry. These are...
Newborn screening tests in the 21st century: what PAs need to know: the benefits of early identification of congenital disorders are undeniable. But what should a physician assistant do if a newborn's screening test results are abnormal?(physician assistants)...
Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through ...
An analysis based on the type of hearing screening children actually received was also performed. Differences between this sensitivity analysis and the main analysis are reported. The significance level was set at P < .05 and 2-sided testing performed. All statistical tests were carried out using...
Assuming the future implementation of NGS technologies into newborn screening (NBS), we conducted a pilot study on fifteen patients with inherited metabolic disorders. Blood was collected from DBS. Whole-exome sequencing was performed, and sequences were analyzed with a specific focus on genes ...
Newborn screening programs are an integral part of public health systems aiming to save lives and improve the quality of life for infants with treatable disorders. Technological advancements have driven the expansion of newborn screening programs in the last two decades and the development of fast,...
disclosed its acquisition of Baby Genes, Inc., intending to expand its product range with newborn screening tests for spinal muscular atrophy, fragile X syndrome, and cystic fibrosis. Executive Summary What are the key trends in the Newborn Screening market? According to the WHO, an estimated ...
Addi- tionally, other technical advances like direct PCR amplification from Guthrie cards without DNA extraction or the develop- ment of microchip-based PCR encourage a wider application of DNA tests in newborn screening (17–19). The potential benefits of confirmatory DNA testing for all ...
‘unsolicited information’ on diseases, susceptibilities, or carrier status that was not the object of the initial screening. In recent years, it has been suggested that newborn screening could be augmented by genomic tests, such as whole genome or whole exome analysis (Solomon et al., 2012)...