Acute fatty liver of pregnancy (AFLP) is an obstetric emergency characterized by maternal
liver failure and may have complications for the mother and fetus, including death. This …

Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …

Abstract The Parenting Stress Index (PSI) was not designed for forensic purposes, but
increasingly it is being used in forensic contexts. The author of the PSI (Abidin, 1998) has …

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 …

Overdiagnosis occurs when a true abnormality is discovered, but detection of that
abnormality does not benefit the patient. It should be distinguished from misdiagnosis, in …

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

Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to
elevated blood cholesterol and a dramatically increased risk of atherosclerosis. It is …

Importance Newborn genomic sequencing (nGS) may provide health benefits throughout
the life span, but there are concerns that it could also have an unfavorable (ie, negative) …

Summary 'Classical organic acidurias' comprise isovaleric aciduria, propionic aciduria and
methylmalonic aciduria. Available data from the literature suggest that the use of …

BACKGROUND. Newborn screening programs now identify children with> 30 biochemical
genetic disorders. False-positive identifications may increase as disorders are added to …