Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study
Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study
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DOI：
10.1016/j.fertnstert.2014.08.021
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发表时间：
2014-12-01
影响因子：
6.7
通讯作者：
Ferraretti, Anna P.
中科院分区：
文献类型：
--
作者：
Gianaroli, Luca;Magli, Cristina;Ferraretti, Anna P.
目的：探讨胚泡液(BF)中DNA的存在及其所预测的染色体状态是否与滋养层(TE)细胞、整个胚胎、设计：前瞻性研究。地点：体外受精单元。患者(S)：17对夫妇进行植入前遗传学筛查，对PBS(n=12)或卵裂球(n=5)进行阵列比较基因组杂交。干预(S)：从51个囊胚中提取BFS和TE细胞进行染色体分析。主要结果衡量(S)：BF中是否存在DNA并评估相应的染色体状况；与TE细胞检测结果和早期分析结果的相关性。结果(S)：39例BF中检出DNA(76.5%)。39例中38例(97.4%)TE细胞BF倍性，单条染色体符合率为96.6%(904/936)。就整个胚胎而言，所有病例的倍性状况都符合，每条染色体的符合率为98.1%。PBS和卵裂球检测对BF倍性状态的预测分别为93.3%和100%，每条染色体的符合率分别为93.5%和94%。结论：胚胎穿刺术可以作为一种替代的染色体检测材料，因为BF对胚胎倍性状态和染色体含量具有很高的预测性。我们的数据证实了卵母细胞和早期卵裂胚胎在确定所产生的胚泡的倍性条件方面的相关性。(C)2014年，由美国生殖医学学会提供。
Objective: To investigate the presence of DNA in blastocyst fluids (BFs) and to estimate whether the chromosomal status predicted by its analysis corresponds with the ploidy condition in trophectoderm (TE) cells, the whole embryo, and that predicted by polar bodies (PBs) or blastomeres.Design: Prospective study.Setting: In vitro fertilization unit.Patient(s): Seventeen couples undergoing preimplantation genetic screening with the use of array comparative genomic hybridization on PBs (n = 12) or blastomeres (n = 5).Intervention(s): BFs and TE cells were retrieved from 51 blastocysts for separate chromosomal analysis.Main Outcome Measure(s): Presence of DNA in BFs and assessment of the corresponding chromosome condition; correlation with the results in TE cells and those predicted by the analysis done at earlier stages.Result(s): DNA was detected in 39 BFs (76.5%). In 38 of 39 cases (97.4%) the ploidy condition of BFs was confirmed in TE cells, and the rate of concordance per single chromosome was 96.6% (904/936). In relation to the whole embryo, the ploidy condition corresponded in all cases with a per-chromosome concordance of 98.1%. The testing of PBs and blastomeres had 93.3% and 100% prediction of BF ploidy condition with a concordance per chromosome of 93.5% and 94%, respectively.Conclusion(s): Blastocentesis could represent an alternative source of material for chromosomal testing, because the BF is highly predictive of the embryo ploidy condition and chromosome content. Our data confirm the relevance of the oocyte and of the early-cleavage embryo in determining the ploidy condition of the resulting blastocyst. (C) 2014 by American Society for Reproductive Medicine.