非整倍体的非侵入性植入前基因检测

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL

Bulletin of Russian State Medical University Pub Date : 2023-08-01 DOI:10.24075/brsmu.2023.034

OI Lisitsyna, AN Ekimov, EE Atapina, AG Syrkasheva, EG Goryainova, NP Makarova, DYu Trofimov, N.V. Dolgushina

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引用次数: 2

摘要

迄今为止，国际社会正在积极努力优化确定胚胎染色体异常的方法。本研究旨在通过分析废培养基(SCM)中的游离DNA，评估无创植入前基因检测非整倍体(niPGT-A)的可能性。我们通过分析SCM非整倍体胚胎的游离DNA进行了niPGT-A。根据胚胎着床前非整倍体基因检测(PGT-A)和滋养外胚层(TE)活检结果，所有囊胚均被认为是非整倍体。这项研究涉及7对夫妇的11个胚胎。所有胚胎在10µL滴液中单独培养9 h，收集SCM并通过niPGT-A进行分析。将所得结果与先前的PGT-A数据进行一致性检验。共评估12份SCM样本，其中11份为胚胎培养样本，1份为对照样本。11例患者中有1例(9.1%)的niPGT-A结果混乱，无法进行核型诊断。PGT-A和niPGT-A结果在10例中有7例(70%)完全一致，而临床一致性在10例中有9例(90%)。在一个病例(10%)中，根据niPGT-A数据，囊胚被认为具有整倍体核型。结论是，niPGT-A是一种很有前途的方法，可以在不需要活检的情况下诊断胚胎着床前染色体状态。

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Noninvasive preimplantation genetic testing for aneuploidy

To date the world community is actively working to optimize the approaches to determining chromosomal abnormalities in embryos. The study was aimed to assess the possibility of using noninvasive preimplantation genetic testing for aneuploidy (niPGT-A) through analysis of cell-free DNA in spent culture medium (SCM). We conducted niPGT-A of aneuploid embryos by analysis of cell-free DNA in SCM. All blastocysts were considered to be aneuploid based on the results of previous preimplantation genetic testing for aneuploidy (PGT-A) with trophectoderm (TE) biopsy. The study involved 11 embryos from seven couples. All the embryos were warmed and individually cultured in the 10 µL drops for 9 h. All SCM was collected and analyzed by niPGT-A. The results obtained were tested for concordance with previous PGT-A data. A total of 12 SCM samples were assessed: 11 samples, in which the embryos were cultured, and one control sample. Chaotic niPGT-A results not allowing the karyotype diagnosis were obtained in one case (9.1%) out of 11. Full concordance of the PGT-A and niPGT-A results was revealed in seven cases out of 10 (70%), while clinical concordance was found in nine cases out of 10 (90%). In one case (10%), the blastocyst was considered to have euploid karyotype based on the niPGT-A data. It has been concluded that niPGT-A can be a promising method of preimplantation embryonal chromosomal status diagnosis that requires no biopsy.

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来源期刊

Bulletin of Russian State Medical University MEDICINE, GENERAL & INTERNAL-

CiteScore

0.80

自引率

0.00%

发文量

期刊介绍： Bulletin of Russian State Medical University (Bulletin of RSMU, ISSN Print 2500–1094, ISSN Online 2542–1204) is a peer-reviewed medical journal of Pirogov Russian National Research Medical University (Moscow, Russia). The original language of the journal is Russian (Vestnik Rossiyskogo Gosudarstvennogo Meditsinskogo Universiteta, Vestnik RGMU, ISSN Print 2070–7320, ISSN Online 2070–7339). Founded in 1994, it is issued once every two months publishing articles on clinical medicine and medical and biological sciences, first of all oncology, neurobiology, allergy and immunology, medical genetics, medical microbiology and infectious diseases. Every issue is thematic. Deadlines for manuscript submission are announced in advance. The number of publications on topics in spite of the issue topic is limited. The journal accepts only original articles submitted by their authors, including articles that present methods and techniques, clinical cases and opinions. Authors must guarantee that their work has not been previously published elsewhere in whole or in part and in other languages and is not under consideration by another scientific journal. The journal publishes only one review per issue; the review is ordered by the editors.