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Genetic Causes of Recurrent Pregnancy Loss


Clinical Obstetrics and Gynecology: September 2016 - Volume 59 - Issue 3 - p 498–508
doi: 10.1097/GRF.0000000000000217
Status of Recurrent Pregnancy Loss

Pregnancy loss is one of the most common obstetric complications, affecting over 30% of conceptions. A considerable proportion of losses are due to genetic abnormalities. Indeed, over 50% of early pregnancy losses have been associated with chromosomal abnormalities. Most are due to de novo nondisjunctional events but balanced parental translocations are responsible for a small but important percentage of genetic abnormalities in couples with recurrent pregnancy loss. In the past, assessment of genetic abnormalities was limited to karyotype performed on placental or fetal tissue. However, advances in molecular genetic technology now provide rich genetic information about additional genetic causes of and risk factors for pregnancy loss. In addition, the use of preimplantation genetic testing in couples undergoing in vitro fertilization has the potential to decrease the risk of pregnancy loss from genetic abnormalities. To date, efficacy is uncertain but considerable potential remains. This chapter will review what is known about genetic causes of recurrent pregnancy loss with a focus on novel causes and potential treatments. Remaining knowledge gaps will be highlighted.

Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah

The authors declare that they have nothing to disclose.

Correspondence: Robert M. Silver, MD, Department of Obstetrics and Gynecology, University of Utah School of Medicine, 30 North 1900 East, Room 2B200, Salt Lake City, UT. E-mail:

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