Pre-implantation genetic screening of discarded embryos through whole genome amplification and next-generation sequencing / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of whole-genome amplification (WGA) and next generation sequencing (NGS) for the pre-implantation screening of discarded embryos.</p><p><b>METHODS</b>In total 476 discarded embryos were collected. After continued culture, 23 high-quality blastocysts were obtained. Blastocysts graded as 4BC or above based on Gardner classification were subjected for blastula biopsy. Five to ten nourish ectoderm cells were hatched with a biopsy needle. Following WGA and NGS, deletion and/or duplication of chromosomal fragments and numerical chromosomal aberrations were analyzed.</p><p><b>RESULTS</b>In total 148 trophoblast cells were obtained from the 23 blastocysts. Following WGA, 60 amplification products were selected for NGS. The results showed that there were 39 abnormal chromosomes derived from 14 blastocysts, which gave an abnormal rate of blastocyst of 60.87% (14/23).</p><p><b>CONCLUSION</b>WGA combined with NGS can enable pre-implantation genetic screening for discarded embryos, which may improve the efficacy of in vitro fertilization as well as reduce the risk for birth defects.</p>