Cell-free DNA in spent culture medium effectively reflects the chromosomal status of embryos following culturing beyond implantation compared to trophectoderm biopsy.
Cell-free DNA in spent culture medium effectively reflects the chromosomal status of embryos following culturing beyond implantation compared to trophectoderm biopsy.
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DOI：
10.1371/journal.pone.0246438
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发表时间：
2021
期刊：
影响因子：
3.7
通讯作者：
Terada Y
中科院分区：
文献类型：
--
作者：
Shitara A;Takahashi K;Goto M;Takahashi H;Iwasawa T;Onodera Y;Makino K;Miura H;Shirasawa H;Sato W;Kumazawa Y;Terada Y
这项前瞻性研究评估了用废弃培养液中的无细胞DNA进行非侵入性植入前非整倍体遗传学检测(niPGT-A)的准确性，以及用种植后培养后的滋养层(TE)活检进行植入前非整倍体遗传学检测(PGT-A)的准确性。对12例接受体外受精的患者捐献的20枚冷冻胚泡进行了研究。其中10个胚胎在第5天冷冻，10个在第6天冷冻。解冻后收集每个囊胚的废培养液和TE细胞，体外培养10d。分离培养后的细胞，用下一代测序法进行染色体分析。分析NiPGT-A和PGT-A对各结局的染色体符合率、敏感性、特异性、阳性预测值(PPV)、阴性预测值(NPV)、假阳性率(FPR)和假阴性率(FNR)。NiPGT-A与生长样本的符合率为9/16(56.3%)，PGT-A与生长的符合率为7/16(43.8%)。NiPGT-A的敏感性为100%，特异性为87.5%，阳性预测值为88.9%，阴性预测值为100%，阳性预测值为12.5%，阴性预测值为0。PGT-A的敏感性为87.5%，特异性为77.8%，阳性预测值为87.5%，阴性预测值为75%，阳性预测值为14.3%，阴性预测值为22.2%。NiPGT-A可能比PGT-A更准确地诊断结果的倍性。
This prospective study evaluated the accuracy of non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) using cell-free DNA in spent culture medium, as well as that of preimplantation genetic testing for aneuploidy (PGT-A) using trophectoderm (TE) biopsy after culturing beyond implantation. Twenty frozen blastocysts donated by 12 patients who underwent IVF at our institution were investigated. Of these, 10 were frozen on day 5 and 10 on day 6. Spent culture medium and TE cells were collected from each blastocyst after thawing, and the embryos were cultured in vitro for up to 10 days. The outgrowths after culturing beyond implantation were sampled and subjected to chromosome analysis using next-generation sequencing. Chromosomal concordance rate, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), false-positive rate (FPR), and false-negative rate (FNR) of niPGT-A and PGT-A against each outgrowth were analyzed. The concordance rate between the niPGT-A and outgrowth samples was 9/16 (56.3%), and the concordance rate between the PGT-A and outgrowth samples was 7/16 (43.8%). NiPGT-A exhibited 100% sensitivity, 87.5% specificity, 88.9% PPV, 100% NPV, 12.5% FPR, and 0% FNR. PGT-A exhibited 87.5% sensitivity, 77.8% specificity, 87.5% PPV, 75% NPV, 14.3% FPR, and 22.2% FNR. NiPGT-A may be more accurate than PGT-A in terms of ploidy diagnostic accuracy in outgrowths.
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影响因子：
21.3
作者：
Shahbazi, Marta N.;Jedrusik, Agnieszka;Vuoristo, Sanna;Recher, Gaelle;Hupalowska, Anna;Bolton, Virginia;Fogarty, Norah M. E.;Campbell, Alison;Devito, Liani G.;Ilic, Dusko;Khalaf, Yakoub;Niakan, Kathy K.;Fishel, Simon;Zernicka-Goetz, Magdalena
通讯作者：
Zernicka-Goetz, Magdalena
影响因子：
16.6
作者：
Bolton H;Graham SJL;Van der Aa N;Kumar P;Theunis K;Fernandez Gallardo E;Voet T;Zernicka-Goetz M
通讯作者：
Zernicka-Goetz M
影响因子：
4
作者：
Duggal, Galbha;Heindryckx, Bjorn;De Sutter, Petra
通讯作者：
De Sutter, Petra
影响因子：
11.8
作者：
Hashimoto, Masakazu;Sasaki, Hiroshi
通讯作者：
Sasaki, Hiroshi
影响因子：
6.7
作者：
McArthur, SJ;Leigh, D;Jansen, RPS
通讯作者：
Jansen, RPS