Abstract
Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the preconception or early prenatal stage, although more options are available if risks are identified before the pregnancy. Preconception counselling covers issues that can affect the health of the mother and baby including folic acid supplementation. Carrier screening for autosomal recessive diseases, such as beta thalassaemia, has resulted in a significantly reduced incidence in many countries. National organisations, however, advocate more in-depth research before such screening recommendations apply to the general population. Recently, advances in genomic technologies have made it possible to greatly expand the scope of genetic screening, with the aim of providing more comprehensive information to prospective parents. This is a complex field, and research should focus on how the technology can be put to best use in the future.