常规体外受精囊胚的非侵入性植入前遗传学检测。
Non-invasive preimplantation genetic testing for conventional IVF blastocysts.
机构信息
Hunan Normal University School of Medicine, Changsha, 410013, Hunan, China.
Hunan International Scientific and Technological Cooperation Base of Development and Carcinogenesis, Changsha, 410013, Hunan, China.
出版信息
J Transl Med. 2022 Sep 4;20(1):396. doi: 10.1186/s12967-022-03596-0.
BACKGROUND
Previous studies suggested that non-invasive preimplantation genetic testing (niPGT) for intracytoplasmic sperm injection (ICSI) blastocysts can be used to identify chromosomal ploidy and chromosomal abnormalities. Here, we report the feasibility and performance of niPGT for conventional in vitro fertilization (IVF) blastocysts.
METHODS
This was a prospective observational study. In the preclinical stage, whole genome amplification and NGS were performed using the sperm spent culture medium (SCM). Then, trophectoderm (TE) biopsies and corresponding SCM derived from 27 conventional IVF monopronuclear embryos were collected. In the clinical stage, samples from 25 conventional IVF cycles and 37 ICSI cycles from April 2020-August 2021 were collected for performance evaluation.
RESULTS
Preclinically, we confirmed failed sperm DNA amplification under the current amplification system. Subsequent niPGT from the 27 monopronuclear blastocysts showed 69.2% concordance with PGT results of corresponding TE biopsies. In the clinical stage, no paternal contamination was observed in any of the 161 SCM samples from conventional IVF. While maternal contamination was observed in 29.8% (48/161) SCM samples, only 2.5% (4/161) samples had a contamination ratio ≥ 50%. Compared with that of TE biopsy, the performances of NiPGT from 161 conventional IVF embryos and 122 ICSI embryos were not significantly different (P > 0.05), with ploidy concordance rates of 75% and 74.6% for IVF and ICSI methods, respectively. Finally, evaluation of the euploid probability of embryos with different types of niPGT results showed prediction probabilities of 82.8%, 77.8%, 62.5%, 50.0%, 40.9% and 18.4% for euploidy, sex-chromosome mosaics only, low-level mosaics, multiple abnormal chromosomes, high-level mosaics and aneuploidy, respectively.
CONCLUSIONS
Our research results preliminarily confirm that the niPGT approach using SCM from conventional IVF has comparable performance with ICSI and might broadening the application scope of niPGT.
背景
先前的研究表明，通过胞浆内单精子注射（ICSI）胚胎进行非侵入性胚胎植入前遗传学检测（niPGT）可用于鉴定染色体倍性和染色体异常。在此，我们报告了使用常规体外受精（IVF）胚胎的 niPGT 的可行性和性能。
方法
这是一项前瞻性观察性研究。在临床前阶段，我们使用精子 spent 培养物（SCM）进行全基因组扩增和 NGS。然后，收集 27 个常规 IVF 单核胚胎的滋养外胚层（TE）活检和相应的 SCM。在临床阶段，从 2020 年 4 月至 2021 年 8 月，收集了 25 个常规 IVF 周期和 37 个 ICSI 周期的样本进行性能评估。
结果
在临床前阶段，我们证实了在当前扩增系统下，精子 DNA 扩增失败。随后，对 27 个单核囊胚进行的 niPGT 与相应 TE 活检的 PGT 结果具有 69.2%的一致性。在临床阶段，在 161 个常规 IVF 的 SCM 样本中，没有观察到父系污染。而在 29.8%（48/161）的 SCM 样本中观察到母系污染，只有 2.5%（4/161）的样本污染比例≥50%。与 TE 活检相比，来自 161 个常规 IVF 胚胎和 122 个 ICSI 胚胎的 NiPGT 的性能没有显著差异（P＞0.05），IVF 和 ICSI 方法的倍性一致性率分别为 75%和 74.6%。最后，对不同类型 niPGT 结果的胚胎的整倍体概率进行评估，结果显示整倍体、性染色体嵌合体仅、低水平嵌合体、多个异常染色体、高水平嵌合体和非整倍体的预测概率分别为 82.8%、77.8%、62.5%、50.0%、40.9%和 18.4%。
结论
我们的研究结果初步证实，使用常规 IVF 的 SCM 进行 niPGT 具有与 ICSI 相当的性能，可能拓宽了 niPGT 的应用范围。
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