Prenatal chromosome diagnosis has been a rapidly changing field over the past 10 years for both sampling methodologies and molecular techniques to complement chromosome analysis. This review summarizes current techniques used by the clinician and their risks, and selected aspects of cytogenetic and molecular techniques used by the laboratories. Within the next 3 to 5 years, DNA techniques are expected to complement, and potentially replace, aspects of current cytogenetic and FISH techniques, and provide more detailed information on the genetic status of the fetus.