Detection of human embryo aneuploidy in the procedure of in vitro fertilization after preimplantation genetic screening using array comparative genomic hybridization

摘要

Introduction. Numerical aberrations (whole chromosomal aneuploidy) have been considered one of the most important factors leading to implantation failure and early miscarriages in patients undergoing assisted reproductive procedures. Embryo selection is mainly based on morphological assessment; however, embryos produced from aneuploid gametes cannot be distinguished from euploid based on morphological characteristics. Detection of aneuploidy in human embryos. Thanks to the introduction of molecular-genetic screening of embryos, it is possible to identify aneuploid embryos via preimplantation genetic screening/diagnosis and thus select the best embryos based on their ploidy. Array comparative genomic hybridization is a molecular technique which allows ploidy analysis of the entire genome amplification from a single cell, within 24 hours after polar body, blastomere or trophectoderm cell biopsy. Trophectoderm cell biopsy is considered the most reliable screening approach given the lower mosaicism appearance at the blastocyst stage. Conclusion. This paper points to the importance and necessity of molecular analysis in embryo selection. Further investigations and improvements are required, because this technology has only recently become available in clinical practice in the in vitro fertilization procedure.