Determining parental origin of embryo aneuploidy: analysis of genetic error observed in 305 embryos derived from anonymous donor oocyte IVF cycles.
Determining parental origin of embryo aneuploidy: analysis of genetic error observed in 305 embryos derived from anonymous donor oocyte IVF cycles.
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DOI：
10.1186/s13039-014-0068-5
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发表时间：
2014
影响因子：
1.3
通讯作者：
Potter DA
中科院分区：
文献类型：
--
作者：
Sills ES;Li X;Frederick JL;Khoury CD;Potter DA
由于卵母细胞捐献者通常是年轻的，被认为是高配子的来源，捐赠者卵母细胞体外受精被认为是治疗卵巢储备减少的有效方法。然而，来自匿名捐赠的卵母细胞的胚胎的非整倍体率仍然没有完全确定。在这里，我们回顾了来自匿名供体-卵子体外受精周期的胚胎的全面染色体筛查结果，以确定非整倍体率和遗传错误的父母来源。为了衡量这一点，对胚胎的植入前遗传筛选(PGS)数据与体外受精前获得的父母DNA进行了回顾性核对，以进行染色体特异性评估。这种方法允许在所有测试的胚胎中区分每条染色体的有丝分裂和减数分裂复制错误，从而提供关于胚胎非整倍体的亲本来源(即来自匿名卵子捐赠者和精子来源)的信息。2013年开始接受体外受精治疗的24名患者产生了305个胚胎。供卵者(n = 2 4)平均(±SD)年龄2 4.0 ± 2.7岁( = 2 0~2 9)。在染色体完全报告的胚胎(n = 284)中，整倍体仅有133例(46.8%)。考虑到所有的胚胎染色体，平均错误率为18%。在观察到的151个胚胎非整倍体中，有133个(88.1%)可归因于卵子供者来源。在所有非整倍体胚胎(n = 15 1)中，来自双亲(即卵子供体和精子来源)的染色体错误占57%。所有染色体异常的平均相关系数(r = 0.60)表明，即使使用来自年轻捐赠者的卵母细胞，染色体也往往有多个同时错误(复杂的非整倍体)。这些数据表明，即使年轻的捐赠者为试管受精提供卵母细胞，胚胎非整倍体的概率仍然很高。即使她的年龄是30岁，卵母细胞捐献者似乎也对胚胎非整倍体做出了重要贡献。如果这些发现被更大规模的前瞻性研究证实，应该考虑将PGS与供体卵母细胞体外受精周期进行常规整合，以识别用于移植的单个整倍体胚胎。
Since oocyte donors are typically young and believed to be a source of highly competent gametes, donor oocyte IVF is considered to be an effective treatment for diminished ovarian reserve. However, the aneuploidy rate for embryos originating from anonymously donated oocytes remains incompletely characterized. Here, comprehensive chromosomal screening results were reviewed from embryos obtained from anonymous donor-egg IVF cycles to determine both the aneuploidy rate and parental source of the genetic error. To measure this, preimplantation genetic screening (PGS) data on embryos were retrospectively collated with parental DNA obtained before IVF for chromosome-specific assessments. This approach permitted mitotic and meiotic copy errors to be differentiated for each chromosome among all embryos tested, thus providing information on the parental source of embryo aneuploidy (i.e., from the anonymous egg donor vs. sperm source). 305 embryos generated for 24 patients who began IVF treatment in 2013. For oocyte donors (n = 24), mean (±SD) age was 24.0 ± 2.7 years (range = 20-29). For embryos with full chromosomal reporting (n = 284), euploidy was present in only 133 (46.8%). Considering all embryo chromosomes, the average error rate was 18%. 133 of 151 observed embryo aneuploidies (88.1%) were attributable to an oocyte donor source. Among all aneuploid embryos (n = 151), chromosomal errors from both genetic parents (i.e., oocyte donor and sperm source) were present in 57%. The average correlation coefficient across all pairs of chromosomal abnormalities (r = 0.60) suggests that chromosomes tend to have multiple and simultaneous errors (complex aneuploidy) even when oocytes from young donors are used. These data show that even when young donors provide oocytes for IVF, the probability of embryo aneuploidy remains high. The oocyte donor appears to make an important contribution to embryo aneuploidy even when her age is <30 yrs. If these findings are confirmed with larger, prospective studies, the routine integration of PGS with donor oocyte IVF cycles to identify single euploid embryos for transfer should be considered.
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影响因子：
6.1
作者：
Twisk, Moniek;Mastenbroek, Sebastiaan;Korevaar, Johanna C.
通讯作者：
Korevaar, Johanna C.
影响因子：
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作者：
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通讯作者：
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作者：
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作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
Salem, Rifaat D.