Reproductive Options for Women with Mitochondrial Disease

Abstract

Mitochondrial diseases are common genetic disorders often associated with a high disease burden and significant mortality. There are currently few effective treatments and no known cures, meaning that women who have been diagnosed with a genetic mutation associated with mitochondrial disease often seek reproductive advice to minimise the risk of having a severely affected child. There are several reproductive options available, and it is important that patients receive specific advice to help them decide which option is appropriate for them. Until recently, the reproductive options available for women who harbour pathogenic mitochondrial DNA mutations were essentially the same as those for nuclear mutations, although the complex features of mitochondrial genetics mean that they will not always guarantee to prevent mitochondrial DNA disease. Furthermore, the options will not be suitable for all women who carry a mitochondrial DNA mutation and wish to contribute genetically to their offspring. In this regard, there have been major recent advances in the development of IVF techniques to prevent the transmission of mitochondrial DNA disease.