New molecular techniques for the prenatal detection of chromosomal aneuploidy

Abstract

Objective: To review the molecular genetic techniques currently available for rapid prenatal diagnosis of fetal aneuploidy, as well as those still under investigation.

Options: Limited to introductory discussion of rapid aneuploidy detection methods.

Evidence: Medline was searched for articles related to the topic that were published after 1992. This document represents an abstraction of the information.

Values: This update was prepared by the Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada approved by the Executive and Council of the Society of Obstetricians and Gynaecologists of Canada.

Benefits, harms, and costs: This update provides information about methods of rapid aneuploidy detection using molecular techniques and the evidence supporting their use in prenatal diagnosis. These methods are reliable and cost-effective for detecting the targeted fetal aneuploidies, but are limited in their ability to detect non-aneuploid chromosome abnormalities, some of which are clinically significant.