Stanford Fertility and Reproductive Medicine Center, 900 Welch Road, Suite 350, Palo Alto, CA 94304, USA.
Reprod Biomed Online. 2012 Nov;25(5):504-7. doi: 10.1016/j.rbmo.2012.06.021. Epub 2012 Jul 20.
Preimplantation genetic diagnosis (PGD) is an increasingly common adjunct to IVF. The information gained from PGD may be used to reduce the incidence of chromosomally abnormal pregnancies and augment the current selection process of embryos. As such, patients may choose to utilize PGD in either fresh or cryopreserved IVF cycles. It is a common practice to cryopreserve excess embryos at the blastocyst stage. In these cases, trophectoderm biopsy is the only technique available for PGD. This articles reports this study centre's experience with trophectoderm biopsies of cryopreserved blastocysts in 12 patients who underwent 13 cycles of PGD. The implantation rate per embryo transferred was 46% and the ongoing pregnancy rate per embryo transfer was 63%. The results from this case series demonstrate that trophectoderm biopsy on cryopreserved blastocysts to perform PGD is logistically feasible. In addition, the rate of implantation and ongoing pregnancy were maintained within a reasonable range to justify the procedure. Preimplantation genetic diagnosis (PGD) is an increasingly common adjunct to IVF and is used to evaluate the genetic makeup of the embryo prior to transfer of the embryo into the uterus. The information gained from PGD may be used to identify single-gene disorders that result in genetic disease, reduce the incidence of chromosomally abnormal pregnancies and/or augment the selection process of embryos to be transferred. In order to perform PGD, a biopsy of the embryo is the performed and cells are removed for testing. PGD may be performed in either fresh or frozen (cryopreserved) IVF cycles. Patients who have cryopreserved embryos remaining in storage from a previous fresh cycle may wish to have these embryos tested with PGD. Many embryos are frozen on day 5 of development, referred to as the blastocyst stage. At this stage of development, embryo biopsy is performed via a technique known as 'trophectoderm biopsy', in which 1-3 of the cells destined to become the placenta are removed from the embryo for chromosomal testing. We report our experience with trophectoderm biopsy of frozen blastocysts in 12 patients who underwent 13 cycles of PGD. The implantation rate per embryo transferred was 46% and the ongoing pregnancy rate per embryo transfer was 63%. The results from this case series demonstrate that trophectoderm biopsy on cryopreserved blastocysts to perform PGD is logistically feasible. In addition, the rate of implantation and ongoing pregnancy were maintained within a reasonable range to justify the procedure.
胚胎植入前遗传学诊断 (PGD) 是体外受精的一种越来越常见的辅助手段。PGD 获得的信息可用于降低染色体异常妊娠的发生率，并增强当前胚胎选择过程。因此，患者可能会选择在新鲜或冷冻的 IVF 周期中使用 PGD。冷冻保存囊胚期多余的胚胎是一种常见的做法。在这些情况下，只有滋养外胚层活检是用于 PGD 的唯一技术。本文报告了本研究中心对 12 名患者 13 个 PGD 周期中冷冻囊胚进行滋养外胚层活检的经验。每个胚胎移植的着床率为 46%，每个胚胎移植的持续妊娠率为 63%。该病例系列的结果表明，对冷冻囊胚进行滋养外胚层活检以进行 PGD 在操作上是可行的。此外，着床率和持续妊娠率保持在合理范围内，证明该程序是合理的。胚胎植入前遗传学诊断 (PGD) 是体外受精的一种越来越常见的辅助手段，用于在将胚胎转移到子宫之前评估胚胎的基因构成。PGD 获得的信息可用于识别导致遗传疾病的单基因疾病，降低染色体异常妊娠的发生率和/或增强要转移的胚胎的选择过程。为了进行 PGD，需要对胚胎进行活检并取出细胞进行检测。PGD 可在新鲜或冷冻（冷冻保存）IVF 周期中进行。以前的新鲜周期中剩余冷冻胚胎的患者可能希望对这些胚胎进行 PGD 检测。许多胚胎在发育的第 5 天冷冻，称为囊胚期。在这个发育阶段，通过一种称为“滋养外胚层活检”的技术对胚胎进行活检，从胚胎中取出 1-3 个注定要成为胎盘的细胞进行染色体检测。我们报告了 12 名患者的 13 个 PGD 周期中冷冻囊胚的滋养外胚层活检经验。每个胚胎移植的着床率为 46%，每个胚胎移植的持续妊娠率为 63%。该病例系列的结果表明，对冷冻囊胚进行滋养外胚层活检以进行 PGD 在操作上是可行的。此外，着床率和持续妊娠率保持在合理范围内，证明该程序是合理的。
