Detecting fetal abnormalities

Three per cent of infants suffer from birth defects, (mostly genetic) including single gene diseases, such as cystic fibrosis or thalassaemia; chromosomal aneuploidies such as Down syndrome; or multifactorial conditions such as spina bifida and congenital heart defects. Perhaps the most important reason for focusing attention on genetics in 1997 is that the field has changed dramatically due to advances in technology and in our understanding of the human genome. New opportunities for prevention combined with more effective treatment, represent the new standard of care that the community has the right to expect for genetic disease. This article looks at antenatal diagnosis early in pregnancy and reviews what progress is to be expected in this field during the coming decade.