An Update on Non-invasive Approaches for Genetic Testing of the Preimplantation Embryo

Kakourou, Georgia; Mamasa, Thalia; Vrettou, Christina; Traeger‐Synodinos, Joanne

doi:10.2174/1389202923666220927111158

Cited by 8 publications

(3 citation statements)

References 141 publications

(119 reference statements)

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“…Additionally, incorporating preimplantation genetic screening (PGS) into IVF has demonstrated the potential to bolster live birth rates in older women. This underscores the potential cost-effectiveness of leveraging genetic screening technologies to enhance the success rates of IVF procedures [ 57 ].…”

Section: Reviewmentioning

confidence: 99%

Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review

Gudapati,

Chaudhari,

Shrivastava

et al. 2024

Cureus

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Preimplantation genetic testing (PGT) has become an integral component of assisted reproductive technology (ART), offering couples the opportunity to screen embryos for genetic abnormalities before implantation during in vitro fertilization (IVF). This comprehensive review explores the advancements and applications of PGT in IVF, covering its various types, technological developments, clinical applications, efficacy, challenges, regulatory aspects, and future directions. The evolution of PGT techniques, including next-generation sequencing (NGS) and comparative genomic hybridization (CGH), has significantly enhanced the accuracy and reliability of genetic testing in embryos. PGT holds profound implications for the future of ART by improving IVF success rates, reducing the incidence of genetic disorders, and mitigating the emotional and financial burdens associated with failed pregnancies and genetic diseases. Recommendations for clinicians, researchers, and policymakers include staying updated on the latest PGT techniques and guidelines, exploring innovative technologies, establishing clear regulatory frameworks, and fostering collaboration to maximize the potential benefits of PGT in assisted reproduction. Overall, this review provides valuable insights into the current state of PGT and its implications for the field of reproductive medicine.

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Section: Reviewmentioning

confidence: 99%

Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review

Gudapati,

Chaudhari,

Shrivastava

et al. 2024

Cureus

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“…Those with good morphology have numerous cells. Regarding the relationship between successful extraembryonic DNA retrieval and embryo quality, research to date has produced contradictory findings [34].…”

Section: Origin Of Embryonic Dnamentioning

confidence: 99%

Evolution of Minimally Invasive and Non-Invasive Preimplantation Genetic Testing: An Overview

Moustakli,

Zikopoulos,

Skentou

et al. 2024

JCM

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Preimplantation genetic testing (PGT) has become a common supplementary diagnοstic/testing tοol for in vitro fertilization (ΙVF) cycles due to a significant increase in cases of PGT fοr mοnogenic cοnditions (ΡGT-M) and de novο aneuplοidies (ΡGT-A) over the last ten years. This tendency is mostly attributable to the advancement and application of novel cytogenetic and molecular techniques in clinical practice that are capable of providing an efficient evaluation of the embryonic chromosomal complement and leading to better IVF/ICSI results. Although PGT is widely used, it requires invasive biopsy of the blastocyst, which may harm the embryo. Non-invasive approaches, like cell-free DNA (cfDNA) testing, have lower risks but have drawbacks in consistency and sensitivity. This review discusses new developments and opportunities in the field of preimplantation genetic testing, enhancing the overall effectiveness and accessibility of preimplantation testing in the framework of developments in genomic sequencing, bioinformatics, and the integration of artificial intelligence in the interpretation of genetic data.

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“…PGT for structural rearrangement can improve the reproductive product in affected couples and reduce the time to achieve a successful live birth (15)(16)(17). Expanded PGT combines polygenic risk score algorithms with the newest molecular biology techniques statutes (18)(19)(20).…”

Section: Overview Of Pgt and Its Approachesmentioning

confidence: 99%

Comparing the advantages, disadvantages and diagnostic power of different non-invasive pre-implantation genetic testing: A literature review

Karami,

Iravani,

Bavarsad

et al. 2024

IJRM

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To improve embryo transfer success and increase the chances of live birth in assisted reproductive methods, there is a growing demand for the use of pre-implantation genetic testing (PGT). However, the invasive approaches used in PGT have led to in vitro fertilization failure and abortions, increasing anxiety levels for parents. To address this, non-invasive PGT methods have been introduced, such as the detection of DNA in blastocoel fluid of blastocysts and spent culture media (SCM). These methods have proven to be minimally invasive and effective in detecting aneuploidy in the chromosomes of human embryos. This review aims to explore the different approaches to pre-implantation diagnosis, including invasive and non-invasive methods, with a particular focus on non-invasive PGT (niPGT). The search strategy involved gathering data from scientific databases such as PubMed, Google Scholar, and Science Direct using relevant keywords. The search was conducted until January 2023. In total, 22 studies have successfully reported the detection and amplification of cell-free DNA in the embryonic SCM. It is important to note that niPGT has some limitations, which include differences in indicators such as cell-free DNA amplification rate, concordance, level of maternal DNA contamination, sensitivity, and specificity between SCM samples and biopsied cells. Therefore, more extensive and detailed research is needed to fully understand niPGT’s potential for clinical applications. Key words: Spent culture media, Non-invasive pre-implantation genetic testing, Biopsy methods, Cell-free embryonic DNA.

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An Update on Non-invasive Approaches for Genetic Testing of the Preimplantation Embryo

Cited by 8 publications

References 141 publications

Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review

Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review

Evolution of Minimally Invasive and Non-Invasive Preimplantation Genetic Testing: An Overview

Comparing the advantages, disadvantages and diagnostic power of different non-invasive pre-implantation genetic testing: A literature review

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