Royal Victoria Hospital, Department of Obstetrics and Gynecology, Division of Reproductive, Endocrinology and Infertility, McGill University Health Center, 687 Pine Avenue West, Room F6.58, Montreal, QC, Canada.
J Assist Reprod Genet. 2013 Nov;30(11):1439-44. doi: 10.1007/s10815-013-0079-x. Epub 2013 Sep 6.
To present a live birth resulting from serial vitrification of embryos and pre-implantation genetic diagnosis (PGD).
A 31-year-old with primary infertility, fragile-X premutation, and decreased ovarian reserve (DOR) (baseline FSH level 33 IU/L), presented after failing to stimulate to follicle diameters >10 mm with three cycles of invitro fertilization (IVF). After counseling, the couple opted for serial in-vitro maturation (IVM), embryo vitrification, and genetic testing using array comparative genomic hybridization (aCGH) and PGD. Embryos were vitrified 2 days after intra-cytoplasmic sperm injection (ICSI). Thawed embryos were biopsied on day-three and transferred on day-five.
The couple underwent 20 cycles of assisted reproductive technology. A total of 23 in-vivo mature and five immature oocytes were retrieved, of which one matured in-vitro. Of 24 embryos, 17/24 (71 %) developed to day two and 11/24 (46 %) survived to blastocyst stage with a biopsy result available. Four blastocysts had normal PGD and aCGH results. Both single embryo transfers resulted in a successful implantation, one a blighted ovum and the other in a live birth.
Young patients with DOR have potential for live birth as long as oocytes can be obtained and embryos created. Serial vitrification may be the mechanism of choice in these patients when PGD is needed.
介绍通过胚胎连续玻璃化和植入前遗传学诊断（PGD）实现的活产。
一名 31 岁原发性不孕、脆性 X 前突变和卵巢储备减少（DOR）（基础 FSH 水平 33IU/L）的患者，在三次体外受精（IVF）促排卵中未能使卵泡直径>10mm 后就诊。经咨询，夫妇选择了连续体外成熟（IVM）、胚胎玻璃化和使用阵列比较基因组杂交（aCGH）和 PGD 进行遗传检测。胚胎在 ICSI 后 2 天进行玻璃化冷冻。解冻后的胚胎在第三天进行活检，并在第五天移植。
夫妇接受了 20 个辅助生殖技术周期。共获得 23 个体内成熟和 5 个未成熟卵母细胞，其中 1 个在体外成熟。24 个胚胎中，17/24（71%）发育到第 2 天，11/24（46%）存活到囊胚阶段，有活检结果。4 个囊胚的 PGD 和 aCGH 结果正常。两次单胚胎移植均成功着床，一次为空孕囊，另一次为活产。
只要能够获得卵子并培养胚胎，DOR 的年轻患者就有活产的可能。当需要 PGD 时，连续玻璃化可能是这些患者的首选机制。
