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

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 prov...

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Autores principales: Gombos, Katalin, Gálik, Bence, Kalács, Krisztina Ildikó, Gödöny, Krisztina, Várnagy, Ákos, Alpár, Donát, Bódis, József, Gyenesei, Attila, Kovács, Gábor L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7957524/
https://www.ncbi.nlm.nih.gov/pubmed/33671014
http://dx.doi.org/10.3390/ijms22052443
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author Gombos, Katalin
Gálik, Bence
Kalács, Krisztina Ildikó
Gödöny, Krisztina
Várnagy, Ákos
Alpár, Donát
Bódis, József
Gyenesei, Attila
Kovács, Gábor L.
author_facet Gombos, Katalin
Gálik, Bence
Kalács, Krisztina Ildikó
Gödöny, Krisztina
Várnagy, Ákos
Alpár, Donát
Bódis, József
Gyenesei, Attila
Kovács, Gábor L.
author_sort Gombos, Katalin
collection PubMed
description 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.
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spelling pubmed-79575242021-03-16 NGS-Based Application for Routine Non-Invasive Pre-Implantation Genetic Assessment in IVF Gombos, Katalin Gálik, Bence Kalács, Krisztina Ildikó Gödöny, Krisztina Várnagy, Ákos Alpár, Donát Bódis, József Gyenesei, Attila Kovács, Gábor L. Int J Mol Sci Article 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. MDPI 2021-02-28 /pmc/articles/PMC7957524/ /pubmed/33671014 http://dx.doi.org/10.3390/ijms22052443 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Gombos, Katalin
Gálik, Bence
Kalács, Krisztina Ildikó
Gödöny, Krisztina
Várnagy, Ákos
Alpár, Donát
Bódis, József
Gyenesei, Attila
Kovács, Gábor L.
NGS-Based Application for Routine Non-Invasive Pre-Implantation Genetic Assessment in IVF
title NGS-Based Application for Routine Non-Invasive Pre-Implantation Genetic Assessment in IVF
title_full NGS-Based Application for Routine Non-Invasive Pre-Implantation Genetic Assessment in IVF
title_fullStr NGS-Based Application for Routine Non-Invasive Pre-Implantation Genetic Assessment in IVF
title_full_unstemmed NGS-Based Application for Routine Non-Invasive Pre-Implantation Genetic Assessment in IVF
title_short NGS-Based Application for Routine Non-Invasive Pre-Implantation Genetic Assessment in IVF
title_sort ngs-based application for routine non-invasive pre-implantation genetic assessment in ivf
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7957524/
https://www.ncbi.nlm.nih.gov/pubmed/33671014
http://dx.doi.org/10.3390/ijms22052443
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