Advancements in Preimplantation Genetic Screening: From FISH to Next Generation Sequencing for Embryo Chromosome Analysis

Recurrent Screening of In Vitro Embryos Using PGS PGT-A in Research

Overview of Preimplantation Genetic Screening PGS

Preimplantation genetic screening PGS, often known as preimplantation genetic testing for aneuploidy PGT-A, is a process that assesses the chromosomal condition of embryos by screening all 23 chromosome prs, offering valuable insights into IVF studies. The reason behind IVF flure could be attributed to the presence of an embryo with an abnormal number of chromosomes, also known as aneuploidy. This condition has higher chances in older maternal age.

The Evolution of PGS

Preimplantation genetic screening initially utilized fluorescence in situ hybridization FISH, which limited its effectiveness and accuracy due to selective chromosome analysis.

Array-based Technology Breakthroughs

Advancements were made by implementing new technologies that enabled complete screening of all 24 chromosomes, significantly enhancing the efficacy of PGS.

The Innovation: Next-Generation Sequencing NGS

The latest technological leap forward, next-generation sequencing NGS, is revolutionizing the standard of PGS. NGS delivers reliable results for aneuploidy testing in embryos, streamlines workflows, boosts throughput capabilities, and offers customizable assays to accommodate diverse requirements.

Process Explanation: Preimplantation Genetic Screening

After ovarian stimulation and egg retrieval, a single or few cells are biopsied from the in vitro embryo. Subsequently, these cells undergo screening for aneuploidy status using either NGS-based methods or array-based approaches.

The Role of Genomics and PGS

Dr. Nathan Treff provides insight into the technological aspect behind preimplantation genetic screening on this podcast.

Listen to Podcast

Accessible Tools for Preimplantation Genetic Screening Products

Equip your research with next-generation sequencing NGS-based products offered for efficient aneuploidy screening. The MiSeq System allows rapid analysis using multiplex capabilities for up to 24 samples per run, with the on-instrument software performing secondary data analysis and importing BAM files into BlueFuse Multi Analysis Software via a prepared sample sheet.

BlueFuse Multi Analysis Software

This user-frily software integrates molecular cytogenetic and genetic information obtned from embryo biopsies analyzed within one framework. It provides an intuitive interface, a unified workflow, and is scalable according to your laboratory's needs. Widely used in most PGS laboratories worldwide.

Explore Related Content

Dive into karyomapping which assesses the probability of embryos carrying mutations related to inherited genetic disorders.

Unlock insights through cytogenomics by combining NGS and microarrays for chromosome anomaly analysis in constitutional and cancer studies.

References

Centers for Disease Control and Prevention. Personal website, accessed March 11, 2016.

Scott RT, Ferry K, Su J, Tao X, Scott K, Treff NR. Comprehensive chromosome screening is highly predictive of the reproductive potential of embryos: a prospective, blinded, nonselection study. Fertil Steril. 2012;974:870-875.

Ata B, Kaplan B, Danzer S, et al. A multicenter comparison trial assessing the impact of test on aneuploidy detection and pregnancy outcome following PGT-A PGT-M for recurrent miscarriage. Hum Reprod. 2019;346:1275-1285.

Scott RT, Fischman SA, Babb MS, et al. Preimplantation genetic screening: recommations from the American College of Obstetricians and Gynecologists Task Force on Assisted Reproductive Technology in Obstetrics and Gynecology. Obstet Gynecol. 2016;1284:e75-e93.

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Innovative approaches in reproductive health have enabled the advancement of preimplantation genetic screening PGS, particularly through techniques like PGT-A, which assess embryo chromosomal health prior to implantation. This review outlines its evolution from initial methods such as fluorescence in situ hybridization FISH to state-of-the-art technologies including next-generation sequencing NGS.

The core mechanism of preimplantation genetic screening involves a biopsy performed on embryos during IVF cycles, followed by an analysis of their chromosomal makeup using NGS or array-based techniques.

Key insights into and its benefits are provided through Dr. Nathan Treff's podcast, which highlights advancements in the field.

To facilitate research excellence, Illumina offers products like the MiSeq System that supports multiplexing up to 24 samples per run, facilitating rapid analysis with the help of BlueFuse Multi Analysis Software for comprehensive data management and interpretation.

For a deeper dive into related content:

• Karyomapping explores potential mutations in embryos linked to genetic disorders.

• Cytogenomics leverages NGS and microarrays for analyzing chromosome anomalies pertinent to both constitutional and cancer research areas.

This comprehensive review encompasses insights from various scientific resources including studies published by renowned journals such as Fertil Steril, Reproduction, and Obstet Gynecol, further bolstering the credibility of this work.

Additional references:

Centers for Disease Control and Prevention Personal website accessed March 11, 2016.

Scott RT et al. 2012. Comprehensive chromosome screening predictive of embryo reproductive potential: A prospective study.

Ata B et al. 2019. Multicenter comparison assessing test 's impact on aneuploidy detection and pregnancy outcomes following PGT-A for recurrent miscarriage.

Scott RT et al. 2016. Recommations from the American College of Obstetricians and Gynecologists Task Force on Assisted Reproductive Technology in Obstetrics and Gynecology.

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