Assisted Reproduction Technology Centre, Department of Obstetrics and Gynecology, CHU Sainte-Justine, Montreal QC, Canada; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Montreal, Montreal QC, Canada.
Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville TN, USA; Recurrent Pregnancy Loss Center, Fertility Associates of Memphis, Memphis TN, USA.
Reprod Biomed Online. 2021 Jul;43(1):120-126. doi: 10.1016/j.rbmo.2021.03.015. Epub 2021 Mar 23.
Genetic testing of products of conception (POC) has been proposed as a tool to be used in the evaluation of patients with recurrent pregnancy loss (RPL). Following a complete RPL evaluation, POC results may reveal an aneuploidy and provide an explanation for the miscarriage in more than 55% of cases. When the cytogenetic result of the pregnancy loss reveals a euploid pregnancy, management should be directed towards the identification of treatable abnormalities. Furthermore, the results of POC testing might better define a subgroup of patients with unexplained RPL who may benefit from expectant management versus preimplantation genetics (aneuploid unexplained RPL) or investigational therapy (euploid unexplained RPL).
对妊娠产物(POC)进行基因检测已被提议作为评估复发性妊娠丢失(RPL)患者的一种工具。在进行完整的 RPL 评估后,POC 结果可能会发现非整倍体,并为 55%以上的流产提供解释。当妊娠丢失的细胞遗传学结果显示为正常二倍体妊娠时,应针对可治疗的异常进行管理。此外,POC 检测结果可能更好地定义一组不明原因 RPL 患者,这些患者可能从期待治疗(非整倍体不明原因 RPL)或试验性治疗(整倍体不明原因 RPL)中受益。