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

Abstract

Abstract 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.

Keywords

• aneuploidy
• low‐grade embryos
• next‐generation sequencing
• sex determination
• spent culture media