Review of current progress: antenatal diagnosis.

Abstract

Summary: Approximately 1 child in every 30 is born with a significant physical or mental handicap and 41% of deaths in children aged 1 month to 15 years are the result of a congenital malformation. New and improved forms of treatment are available for some congenital abnormalities; in others there appears to be advantage in antenatal diagnosis so that termination of the pregnancy may be considered before the stage of extrauterine viability of the fetus is reached.Practical methods of early antenatal diagnosis are reviewed, with their indications, risks, and shortcomings. The use of alphafetoprotein estimations in amniotic fluid and maternal blood to identify neural tube defects and the karyotyping and biochemical assay of cultured amniotic cells are currently the most important of these. The history of antenatal diagnosis is reviewed and cost‐benefit analysis is discussed. With the concept of antenatal diagnosis and its widespread implementation and acceptance, there have arisen important questions of medical ethics and community policy, and these are discussed. A team consisting of an obstetrician, a geneticist and a paediatrician should be working together to provide genetic counselling prior to testing to explain the natural history of the disease in question and the mathematical risks concerned. Prospects for future endeavours in this field are discussed.