Abstract
One of the most important limitations of genetic testing in preimplantation embryos is embryonic mosaicism, especially when performed on D3 with only a single blastomere evaluated. Previous publications, using Array-Comparative Genomic Hybridization (a-CGH) to compare day 3 (D3) biopsies versus trophectoderm biopsies for the analysis of aneuploid embryos, showed similar high concordance rates per embryo diagnosis for D3 biopsies and trophectoderm biopsies. Next generation sequencing (NGS) was introduced lately as a new technique for preimplantation genetic testing for aneuploidies (PGT-A). Using this technique, this retrospective descriptive study evaluated the degree of the concordance of the diagnosis between preimplantation human cleavage stage (D3) and blastocyst stage (D5) embryos. Double biopsies on D3 and D5 were performed on 118 embryos, reaching blastocyst stage on D5 and had not been selected for transfer. As the fertilization law of the United Arab Emirates does not allow embryo freezing, also surplus euploid embryos after D 3 biopsy were included.Analysis of the NGS results from D3 and D5 embryo biopsies showed a total concordance rate per embryo diagnosis of 85.6% for euploid and aneuploid embryos. The concordance rates per embryo chromosomal pattern for embryo diagnosed as aneuploid at both biopsy stages was 82.2%. However, the status regarding the affected chromosomes was not identical on D3 and D5. Hence, the total concordance rate between D3 biopsy and D5 biopsy was limited to 67.8%.This current study clearly demonstrated that the concordance rates between D3 and D5 biopsies in aneuploid and euploid embryos are lower than previously reported.
Highlights
Infertility is a common condition today [1] and exacerbated by the fact that couples tend to postpone parenthood, leading to an increasing age in couples attempting to conceive [2]
This current study clearly demonstrated that the concordance rates between day 3 (D3) and day 5 (D5) biopsies in aneuploid and euploid embryos are lower than previously reported
Due to mosaicism, the discarding of potentially viable, euploid embryos might occur. The aim of this descriptive study was to evaluate the extend of the concordance / discordance between the diagnosis in cleavage stage and blastocyst stage embryos, which may occur as a result of mosaicism or technical error
Summary
Infertility is a common condition today [1] and exacerbated by the fact that couples tend to postpone parenthood, leading to an increasing age in couples attempting to conceive [2]. One of the most crucial factors determining success of ART-treatment is the female age, due to increasing aneuploidy rates in oocytes in women of advanced age [6]. The detection of chromosomal abnormality rates up to 62.9% in couples with a mean female age of 32.33 years suggest that these aneuploidies are not exclusively attributed to advanced maternal age [10,11]. Due to mosaicism, the discarding of potentially viable, euploid embryos might occur The aim of this descriptive study was to evaluate the extend of the concordance / discordance between the diagnosis in cleavage stage and blastocyst stage embryos, which may occur as a result of mosaicism or technical error. As a result of this law, surplus euploid embryos cannot be cryopreserved for future transfer and as a result are discarded
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