Prenatal diagnosis of triploidy

Abstract

Triploidy is one of the most common chromosomal numerical aberrations, resulting usually from one out off two main mechanisms: aberrant segregation of chromosomes during meiosis or from the fertilization of one egg by two sperms. Triploidy usually causes prenatal death. In present paper the methods of non-invasive and invasive prenatal diagnosis of triploidy are described. We also report the case of triploid fetus, diagnosed by ultrasound visualisation followed by amniocenthesis and cytogenetic analysis.