Invasive techniques of prenatal diagnosis

Abstract

The last 10–15 years have seen the development of both obstetrical and laboratory techniques which have made the field of prenatal diagnosis almost a speciality in itself. A number of invasive procedures are now available which allow access to the fetus and its environment, and enable the diagnosis of congential disorders, either by analysis of the genotype or by study of phenotypical changes. This has been the basis for a new understanding of fetal pathophysiology, with consequences for clinical management which are still being defined. New techniques have been developed and older ones are being reappraised. The aim of this review is to give a brief summary of this continuous, often unsettling, process.