Aneuploidy and sex concordance rate between cell-free DNA analysis from spent culture media of preimplantation embryo and DNA from whole embryo with respect to different morphological grading

Reproductive medicine and biology

article

Hiroki Sonehara¹  Ryoya Matsumoto¹  Naoki Nakayama²  Masato Kobanawa⁴  Koki Numata²  Akiko Kawasaki⁵  Makio Shozu³ 

[1] Kashiwanoha Genome Clinic;Hara Medical Clinic;Department of Reproductive Medicine, Graduate School of Medicine, Chiba University;Kobanawa Clinic;Department of Obstetrics and Gynecology, Faculty of Medicine, University of Tsukuba;Evolution and Reproductive Biology, Medical Mycology Research Center, Chiba University

关键词: aneuploidy;    low-grade embryos;    next-generation sequencing;    sex determination;    spent culture media;   

DOI  :  10.1002/rmb2.12493

学科分类：工业工程学

来源: Wiley

【 摘 要 】

Purpose The aneuploidy and sex concordance between cell-free DNA in spent culture media (SCM) and DNA from whole embryo with respect to different morphological grading were examined to evaluate the feasibility of non-invasive preimplantation genetic testing for aneuploidy (niPGT-A). Methods A total of 46 pairs of embryos and corresponding SCM were divided into two groups based on the morphological grade. DNA was extracted from 22 and 24 pairs of low- and high-grade embryos, respectively, and respective SCM followed by chromosomal analysis using next-generation sequencing. Aneuploidy study and sex determination were conducted for both groups, and concordance rates were calculated. Results For low-grade embryos, 63.6% (14/22) were determined as aneuploidy by whole embryo analysis, and concordance rates were 54.5% (12/22) using niPGT-A. On the contrary, for high-grade embryos 41.7% (10/24) were determined as aneuploidy by whole embryo analysis, and concordance rates were 62.5% (15/24) using niPGT-A. The concordance rates were not statistically different between the low-grade and high-grade embryo groups ( p  = 0.804). For sex determination, concordance rates between whole embryo and SCM were 81.8% (18/22) and 87.5% (21/24) in low- and high-grade groups, respectively. Conclusion Aneuploidy and sex evaluation by niPGT-A may be feasible for both morphologically low- and high-grade embryos.

【 授权许可】

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