Page Jessica M, Silver Robert M
Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah.
Clin Obstet Gynecol. 2016 Sep;59(3):498-508. doi: 10.1097/GRF.0000000000000217.
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.
妊娠丢失是最常见的产科并发症之一，影响超过30%的妊娠。相当一部分妊娠丢失是由遗传异常引起的。事实上，超过50%的早期妊娠丢失与染色体异常有关。大多数是由于新发的非整倍体事件，但平衡的亲代易位在复发性妊娠丢失夫妇的遗传异常中占比虽小却很重要。过去，遗传异常的评估仅限于对胎盘或胎儿组织进行核型分析。然而，分子遗传技术的进步现在提供了关于妊娠丢失的其他遗传原因和危险因素的丰富遗传信息。此外，在接受体外受精的夫妇中使用植入前基因检测有可能降低因遗传异常导致的妊娠丢失风险。迄今为止，疗效尚不确定，但潜力巨大。本章将回顾关于复发性妊娠丢失的遗传原因的已知情况，重点关注新的原因和潜在治疗方法。还将突出剩余的知识空白。
