Evaluation of a novel non-invasive preimplantation genetic screening approach.
Evaluation of a novel non-invasive preimplantation genetic screening approach.
复制标题
DOI：
10.1371/journal.pone.0197262
复制
发表时间：
2018
期刊：
影响因子：
3.7
通讯作者：
Librach C
中科院分区：
文献类型：
--
作者：
Kuznyetsov V;Madjunkova S;Antes R;Abramov R;Motamedi G;Ibarrientos Z;Librach C
评估从囊胚培养条件培养液（BCCM）中分离的胚胎DNA与囊胚腔液（BF）混合是否可用于囊胚期染色体非整倍体的非侵入性植入前遗传学检测（非侵入性植入前遗传学筛查，NIPGS）。来自35名接受IVF的患者的47个胚胎。使用下一代测序（NGS）与滋养外胚层（TE）活检和/或全胚泡（WB）相比，组合的BCCM加BF的DNA分析。在47份NIPGS样品（28份冻融样品和19份新鲜培养样品）中成功扩增了胚胎DNA，范围为6.3 - 44.0 ng/μl。对于冻融胚胎，NIPGS与TE活检、NIPGS与WB、TE与WB取自同一胚胎的样品之间的每个样品的全染色体拷贝数的一致率相等，为87.5%;每条染色体的符合率分别为99.3%、99.7%和99.7%（P> 0.05）。新鲜胚胎（培养第4 ~ 5/6天），NIPGS与TE的全染色体拷贝数一致率为100%，单染色体一致率为98.2%（P>0.05）。BCCM和BF的组合含有足够的胚胎DNA用于全基因组扩增和准确的非整倍体筛选。我们的研究结果表明，使用BCCM结合BF的非整倍体筛查可能作为一种新的NIPGS方法用于人类IVF。
To assess whether embryonic DNA isolated from blastocyst culture conditioned medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non-invasive preimplantation genetic testing for chromosomal aneuploidy (non-invasive preimplantation genetic screening, NIPGS). 47 embryos from 35 patients undergoing IVF. DNA analysis of combined BCCM plus BF in comparison with trophectoderm (TE) biopsy and/or whole blastocyst (WB)using next generation sequencing (NGS). Embryonic DNA was successfully amplified in 47/47 NIPGS samples (28 frozen-thawed and 19 fresh culture samples) ranging from 6.3 to 44.0 ng/μl. For frozen-thawed embryos, the concordance rate for whole chromosome copy number per sample was equivalent between NIPGS vs. TE biopsy, NIPGS vs. WB and TE vs. WB samples taken from the same embryo was 87.5%; 96.4% and 91.7% respectively (P>0.05), and the rate of concordance per single chromosome was 99.3%, 99.7% and 99.7%, respectively (P>0.05). In fresh cases (Day 4 to Day 5/6 culture), the concordance rate for whole chromosome copy number per sample between NIPGS vs. TE samples taken from the same embryo was 100%, and the rate of concordance per single chromosome was 98.2% (P>0.05). A combination of BCCM and BF contains sufficient embryonic DNA for whole genome amplification and accurate aneuploidy screening. Our findings suggest that aneuploidy screening using BCCM combined with BF could potentially serve as a novel NIPGS approach for use in human IVF.
登录
查看更多内容
影响因子：
4
作者：
Johnson DS;Cinnioglu C;Ross R;Filby A;Gemelos G;Hill M;Ryan A;Smotrich D;Rabinowitz M;Murray MJ
通讯作者：
Murray MJ
影响因子：
6.7
作者：
Gianaroli, Luca;Magli, Cristina;Ferraretti, Anna P.
通讯作者：
Ferraretti, Anna P.
影响因子：
4
作者：
Palini, S.;Galluzzi, L.;Bulletti, C.
通讯作者：
Bulletti, C.
影响因子：
6.7
作者：
Scott, Richard T., Jr.;Upham, Kathleen M.;Treff, Nathan R.
通讯作者：
Treff, Nathan R.
影响因子：
3.6
作者：
Liu, Jianqiao;Wang, Weihua;Gill, Jimmy
通讯作者：
Gill, Jimmy