Genomic advances have contributed to a proliferation of newborn screening (NBS)
programs. Psychosocial consequences of NBS have been identified as risks to these public …

Genetic screening can be hugely beneficial, yet its expansion poses clinical and ethical
challenges due to results of uncertain clinical relevance (such as 'cystic fibrosis screen …

The genetic testing and genetic screening of children are commonplace. Decisions about
whether to offer genetic testing and screening should be driven by the best interest of the …

Purpose: Genomic microarrays can detect copy-number variants not detectable by
conventional cytogenetics. This technology is diffusing rapidly into prenatal settings even …

Newborn screening for critical congenital heart defects (CCHD) was added to the US
Recommended Uniform Screening Panel in 2011. Within 4 years, 46 states and the District …

Severe combined immunodeficiency (SCID) is characterized by severely impaired T-cell
development and is fatal without treatment. Newborn screening (NBS) for SCID permits …

Purpose While neonatal bloodspot screening (NBS) for severe combined immunodeficiency
(SCID) has been introduced more than a decade ago, implementation in NBS programs …

Various stakeholders have issued recommendations regarding the use of genomics in
pediatrics. These guidelines are driven in part by concerns about psychosocial risks of …

Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological
damage if left untreated. PKU is identified through newborn screening in developed …

The clinical advantages of the newborn screening programme (NBS) in the UK are well
described in the literature. However, there has been little exploration of the psychosocial …