Overview and definition of risk: Its assessment and management

Risk assessment includes both risk estimation (identifying hazards and estimating their outcomes and probabilities) and risk evaluation (determining the significance or value of risks to those concerned with or affected by the decision). Risk estimation is about situations, and risk evaluation about the effect on people. Few situations are absolutely safe. Risks need to be estimated, and for many kinds of risk (e.g., exposures to potentially toxic substances or to potentially catastrophic situations) an expert view has to be formed, which must take account of associated uncertainties. Different sections of the public perceive risk in different ways, and regard some risks more seriously than the expert estimates. Thus studies of risk perception form a further input into the decision-making process. Another input is the benefit of the activity. A regulatory framework consistent with the reality of risk estimation has been proposed. Since risks and benefits fall on different parts of the community, the decision process is essentially political, though it must be informed scientifically. How the decision is taken will depend on national governmental practices.     

The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements

We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, feeding difficulties, and evidence of hypertrophic cardiomyopathy. The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes. Copyright © 2002 John Wiley & Sons, Ltd.