利用胚泡废培养基对非整倍体进行无创着床前基因检测,可作为传统着床前基因检测中滋养外胚层活检的补充。

IF 2.1 4区 医学 Q3 GENETICS & HEREDITY
Songchang Chen, Li Wang, Yuting Hu, Yaxin Yao, Fangfang Gao, Chunxin Chang, Lanlan Zhang, Hefeng Huang, Daru Lu, Chenming Xu
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引用次数: 0

摘要

背景:探讨无创胚胎植入前基因检测(niPGT)是否与传统胚胎植入前基因检测(PGT)互补。结果:收集常规胚培养废培养基(SCM)样品40份,每个SCM样品(10µL)一半用于全基因组扩增,另一半在-80°C保存3-6个月。40个新鲜SCM样本中有36个成功扩增和测序。36对冻融SCM样品与新鲜扩增的SCM样品显示100%的一致性。然后采集51对夫妇149个囊胚的SCM和营养外胚层(TE)样本。成功扩增率达到98.0%(146/149)。对于146例配对TE活检和SCM样本,总体一致性率为82.9%(121/146)。捐赠10个非整倍体TE结果但整倍体niPGT结果的胚胎。相对于内细胞团(ICM)结果(te阳性胚胎),niPGT的真阴性率为70.0%(7/10)。结论:这些结果表明,SCM在-80°C保存6个月,不影响基于NICSInst扩增的niPGT结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Noninvasive preimplantation genetic testing for aneuploidy using blastocyst spent culture medium may serve as a backup of trophectoderm biopsy in conventional preimplantation genetic testing.

Background: To investigate whether the noninvasive preimplantation genetic testing (niPGT) complement conventional preimplantation genetic testing (PGT) in the embryos for aneuploidy.

Results: 40 spent culture medium (SCM) samples from routine embryo culture were collected, and half of each SCM (10 µL) sample was used for whole genome amplification, while the other half was stored at -80 °C for 3-6 months. Thirty-six out of 40 fresh SCM samples were successfully amplified and sequenced. Thirty-six paired frozen-thawed SCM samples showed 100% concordance with the freshly amplified SCM samples. Then, SCM and trophectoderm (TE) samples from 149 blastocysts from 51 couples were collected. A 98.0% successful SCM sample amplification rate (146/149) was achieved. For the 146 paired TE biopsy and SCM samples, the overall concordance rate was 82.9% (121/146). Ten embryos with aneuploid TE results but euploid niPGT results were donated. A 70.0% (7/10) true negative rate was achieved by niPGT with respect to the inner cell mass (ICM) results (TE-positive embryos).

Conclusions: These results suggested that SCM stored at -80 °C for 6 months without affecting niPGT results based on NICSInst amplification.

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来源期刊
BMC Medical Genomics
BMC Medical Genomics 医学-遗传学
CiteScore
3.90
自引率
0.00%
发文量
243
审稿时长
3.5 months
期刊介绍: BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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