What is the best point in life for genetic screening?
A comprehensive genetic screening programme requires a combination of approaches because each individual approach has limitations and advantages. In contrast with the predominantly sporadic risk of a chromosomal disorder or congenital malformation, the risk of inherited disease is lifelong, detectable at any time, may affect every pregnancy and involves other family members. Ideally, people with such risks should be identified before they start a family, so that they can make an informed choice among the options available and prepare themselves for the associated stresses. In most industrialized countries, screening for genetic reproductive risk is integrated into antenatal screening. The approach is considered efficient because only women who will actually have children are tested, at a time when the result is highly relevant to them. However, Box 7.1 shows that antenatal screening is unsatisfactory as the only screening approach. Its limitations are particularly important in the East
