Assisted Reproductive Technology, Congenital Malformations, and Epigenetic Disease

Abstract

In the 3 decades since the birth of the first in vitro fertilization-conceived child, assisted reproduction technologies were rapidly assimilated into clinical care and are now responsible for 1% to 3% of all livebirths in North America and Europe. The rate of congenital anomalies is low (4% to 6%), though it represents a modest increase over the background rate of major malformations (3%). Additionally, emerging studies of imprinting and epigenetic conditions, those genetic disorders due to changes in DNA transcription without change in DNA sequence, suggest that the preimplantation period is vulnerable to perturbations. Review of these studies provides clinically useful information and a basis for investigations of the long-term effects of assisted reproduction technology on the children conceived.