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

Autor: Attila Gyenesei, Krisztina Kalacs, Krisztina Gödöny, Ákos Várnagy, József Bódis, Katalin Gombos, Bence Galik, Gábor L. Kovács, Donát Alpár
Jazyk: angličtina
Rok vydání: 2021
Předmět:
0301 basic medicine
bioinformatic pipeline
medicine.medical_treatment
missed abortion
Intracytoplasmic sperm injection
Embryo Culture Techniques
lcsh:Chemistry
0302 clinical medicine
Medicine
Copy-number variation
lcsh:QH301-705.5
Spectroscopy
030219 obstetrics & reproductive medicine
medicine.diagnostic_test
Blastocyst Transfer
High-Throughput Nucleotide Sequencing
General Medicine
Computer Science Applications
medicine.anatomical_structure
Quality Score
Female
Adult
DNA Copy Number Variations
Computational biology
Fertilization in Vitro
in vitro fertilisation
Catalysis
Article
Inorganic Chemistry
03 medical and health sciences
Humans
Blastocyst
Embryo Implantation
Genetic Testing
Physical and Theoretical Chemistry
Molecular Biology
Preimplantation Diagnosis
Genetic testing
Retrospective Studies
In vitro fertilisation
business.industry
screening
Organic Chemistry
Aneuploidy
spent culture medium
030104 developmental biology
Workflow
lcsh:Biology (General)
lcsh:QD1-999
next-generation sequencing
business
Zdroj: International Journal of Molecular Sciences, Vol 22, Iss 2443, p 2443 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 5
ISSN: 1661-6596
1422-0067
Popis: 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.
Databáze: OpenAIRE
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