Population genetic screening

Abstract

Background: Genetic screening programs in Australia are primarily carried out during pregnancy for maternal thalassaemia carrier status, chromosomal conditions and neural tube defects in the fetus, and for a number of conditions in the newborn. Objective: This article describes these programs and the general practitioner's role, particularly around offering prenatal screening that includes nongenetic aspects (eg. smoking, alcohol), to enable good practice. Discussion: General practitioners can be involved in offering prenatal screening and in giving increased risk results from prenatal and newborn screening, with due consideration of informed decision making and counselling about the meaning..