First trimester prenatal diagnosis: amniocentesis

Abstract

Twenty years after midtrimester genetic amniocentesis was first used, first trimester invasive prenatal procedures were introduced. Chorionic villous sampling presents some disadvantages that entitled many centers to look into an alternative for first trimester diagnosis. Early amniocentesis (EA) can be performed effectively, as shown over the years in many observational studies and partially randomized and randomized trials. Recently, a multicenter randomized trial (Canadian Early and Midtrimester Amniocentesis Trial) reported a higher total pregnancy loss, a significant increased incidence of musculoskeletal foot deformities, a significant increased culture failure rate, and an increased postamniocentesis rate of leakage in the EA group compared with midtrimester amniocentesis. These results concerning EA procedures from 11w(+0) to 12w(+6) should be included in any pre-EA counseling. However, further trials have started to evaluate EA procedures between 13w(+0) to 14w(+6).