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Review Article Volume 9 Issue 3
Advances inpreimplantation genetic testing with next generation sequencing
Beatrice Chung Fat King Brunet, Mohammad Bilaal Toorabally, Wei Wu, Jiayin Liu
Received: January 01, 1971 | Published: May 14, 2018
Citation: Brunet BCFK, Toorabally MB, Wu W, et al. Advances in preimplantation genetic testing with next generation sequencing. Obstet Gynecol Int J. 2018;9(3):168-173. DOI: 10.15406/ogij.2018.09.00325
Abstract
Background: Preimplantation genetic testing (PGT) refers to the determination of an embryo’s constituency before implantation and there is a gradual shift in technology towards next generation sequencing (NGS). Numerous biopsy samples such as blastomeres of cleavage stage embryos, trophectoderms of blastocysts, polar bodies, blastocele fluid and culture medium can be analyzed with different NGS platforms. NGS technology has been validated and is now clinically applied to detect partial or segmental aneuploidies, chromosomal aberrations including imbalanced translocations, inversions, deletions, duplications, insertions, mosaicism, triploidies and single gene disorders which are often responsible for infertility, spontaneous abortions and fetal malformations or diseases. Comprehensive chromosomal screening for all 24 chromosomes together with single gene disorder detection can be achieved at the same time in a single run using NGS and the analysis of multiple samples with different indications can be done on a single chip. NGS has the ability to detect numerical, structural and genetic abnormalities at a low cost with high efficiency and accuracy.
Keywords: Next generation sequencing, Preimplantation genetic testing, Preimplantation genetic diagnosis, Preimplantation genetic screening, Copy number variance, Wide genome amplification, Embryo’s chromosomal constituency, Termination of pregnancy, Cytogenetic molecular analysis, Amplification method, Illumina, Biopsy, Trophectoderm, Blastocoele fluid, Chromosome screening
©2018 Brunet, et al. This is an open access article distributed under the terms of the, which permits unrestricted use, distribution, and build upon your work non-commercially.