Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1,301 human blastocysts
American Journal of Obstetrics and Gynecology Jul 30, 2020
Rubio C, Navarro-Sánchez L, García-Pascual CM, et al. - Via this study, researchers investigated the concordance and reproducibility of testing embryonic cell-free DNA vs trophectoderm DNA obtained from the same embryo in a large sample of human blastocysts. In addition, they examined the contribution of the inner cell mass and trophectoderm to embryonic cell-free DNA released to the culture media. They conducted an interim analysis of a prospective, observational study among 8 in vitro fertilization centers in 4 continents including 1,301 day-6/7 blastocysts obtained in 406 in vitro fertilization cycles from 371 patients aged 20–44 years undergoing preimplantation genetic testing for aneuploidy. Intracytoplasmic sperm injection or in vitro fertilization was performed on fresh oocytes. Concordance of 78.2% (866/1,108) was observed between embryonic cell-free DNA analyses and the corresponding trophectoderm biopsies. They observed concordances of embryonic cell-free DNA with trophectoderm and inner cell mass implying that the embryonic cell-free DNA originates from both compartments of the human embryo. Findings from this large multicenter series thereby suggest a high concordance between noninvasive analysis of embryonic cell-free DNA in spent blastocyst culture media and trophectoderm biopsy results. A noninvasive approach for prioritizing embryo euploidy confers important benefits such as bypassing invasive embryo biopsy and reduced cost, potentially raising accessibility for a wider patient population.
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