NGS-Based Application for Routine Non-Invasive Pre-Implantation Genetic Assessment in IVF

International Journal of Molecular Sciences

József Bódis¹  Krisztina Gödöny¹  Donát Alpár²  Katalin Gombos³  Attila Gyenesei³  Krisztina Ildikó Kalács³  Gábor L. Kovács³  Bence Gálik³  Ákos Várnagy³ 

[1]MTA-PTE Human Reproduction Scientific Research Group, University of Pécs, 7624 Pécs, Hungary

[2]MTA-SE Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Üllői út 26., 1085 Budapest, Hungary

[3]Szentágothai Research Center, University of Pécs, Ifjúság útja 20., 7624 Pécs, Hungary

关键词: in vitro fertilisation;    missed abortion;    spent culture medium;    next-generation sequencing;    bioinformatic pipeline;    screening;   

DOI  :  10.3390/ijms22052443

来源: DOAJ

【 摘 要 】

Although non-invasive pre-implantation genetic testing for aneuploidy (NIPGT-A) is potentially appropriate to assess chromosomal ploidy of the embryo, practical application of it in a routine IVF centre have not been started in the absence of a recommendation. Our objective in this study was to provide a comprehensive workflow for a clinically applicable strategy for NIPGT-A based on next-generation sequencing (NGS) technology with the corresponding bioinformatic pipeline. In a retrospective study, we performed NGS on spent blastocyst culture media of Day 3 embryos fertilised with intracytoplasmic sperm injection (ICSI) with quality score on morphology assessment using the blank culture media as background control. Chromosomal abnormalities were identified by an optimised bioinformatics pipeline applying copy number variation (CNV) detecting algorithm. In this study, we demonstrate a comprehensive workflow covering both wet- and dry-lab procedures supporting a clinically applicable strategy for NIPGT-A that can be carried out within 48 h, which is critical for the same-cycle blastocyst transfer. The described integrated approach of non-invasive evaluation of embryonic DNA content of the culture media can potentially supplement existing pre-implantation genetic screening methods.

【 授权许可】

Unknown