scholarly journals Preimplantation Genetic Testing: A Review of Past and Current

2021 ◽  
pp. 78-85
Author(s):  
Aisha Elaimi
Keyword(s):  
Genetic Testing ◽  
Reproductive Medicine ◽  
Reproductive Technology ◽  
Molecular Techniques ◽  
Genetic Defects ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
The Past ◽  
Genetic Technologies

The field of medical genetics has seen significant and incredible advances in technology for the past several decades. Genetic technologies, particularly in the reproductive medicine discipline, represent a fresh era in medicine that may develop significantly in the coming years. The purpose of Preimplantation Genetic Testing (PGT) in the situation of assisted reproductive technology (ART) treatments with IVF (in vitro fertilization) or ICSI (intracytoplasmic sperm injection) is particularly controversial as it is done before implantation [1]. However, despite the successful application of PGT in the field of IVF in overcoming infertility and genetic defects, the techniques pose various limitations, and concerns that need to be addressed to enhance their success rate [2]. This review will introduce PGT and summarize the molecular techniques used in its application as well as highlight the future advances in the field.

scholarly journals Preimplantation Genetic Testing: Where We Are Today

2020 ◽  
Vol 21 (12) ◽  
pp. 4381 ◽  
Author(s):  
Ermanno Greco ◽  
Katarzyna Litwicka ◽  
Maria Giulia Minasi ◽  
Elisabetta Cursio ◽  
Pier Francesco Greco ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Significance ◽  
Current Knowledge ◽  
Embryo Implantation ◽  
Molecular Techniques ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Polar Bodies ◽  
Embryo Stage

Background: Preimplantation genetic testing (PGT) is widely used today in in-vitro fertilization (IVF) centers over the world for selecting euploid embryos for transfer and to improve clinical outcomes in terms of embryo implantation, clinical pregnancy, and live birth rates. Methods: We report the current knowledge concerning these procedures and the results from different clinical indications in which PGT is commonly applied. Results: This paper illustrates different molecular techniques used for this purpose and the clinical significance of the different oocyte and embryo stage (polar bodies, cleavage embryo, and blastocyst) at which it is possible to perform sampling biopsies for PGT. Finally, genetic origin and clinical significance of embryo mosaicism are illustrated. Conclusions: The preimplantation genetic testing is a valid technique to evaluated embryo euploidy and mosaicism before transfer.

scholarly journals Preimplantation Genetic Testing in the 21st Century: Uncharted Territory

2013 ◽  
Vol 7 ◽  
pp. CMRH.S10914 ◽  
Author(s):  
Paul R. Brezina
Keyword(s):  
Genetic Testing ◽  
Genetic Diagnosis ◽  
Future Change ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
The Past ◽  
Mendelian Genetics ◽  
Responsible Manner ◽  
Improve Health

The past hundred years have given birth to arguably the most profound changes in society, medicine, and technology the world has ever witnessed. Genetics is one such field that has enjoyed a meteoric rise during this time. Progressing from Mendelian genetics to the discovery of DNA to the ability to sequence the human genome, perhaps no other discipline holds more promise to affect future change than genetics. Technology currently exists to evaluate some of the genetic information held by developing embryos in the context of an in vitro fertilization (IVF) cycle. This information is then used to determine which embryos are selected for uterine transfer. Many societies have enacted legislation to protect against possible abuses utilizing this technology. However, it is incumbent upon society to continue ensuring that preimplantation genetic diagnosis (PGD)–-and genetic testing in general–-is applied in a way that utilizes its potential in a responsible manner to improve health care.

scholarly journals Preimplantation genetic testing for aneuploidy: state of the art, trends and perspectives

2019 ◽  
pp. 3-12
Author(s):  
И.Н. Лебедев
Keyword(s):  
Genetic Testing ◽  
Reproductive Medicine ◽  
Chromosomal Abnormalities ◽  
State Of The Art ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Current State ◽  
Reproductive Losses ◽  
Chromosomal Diseases

Профилактика хромосомных болезней через преимплантационную генетическую диагностику становится актуальным востребованным направлением современной репродуктивной медицины и генетики. Скрининг эмбрионов в рамках циклов экстракорпорального оплодотворения позволяет исключить перенос анеуплоидных бластоцист, обеспечивая повышение вероятности наступления беременности и рождения здорового ребенка, а также снижая риски репродуктивных потерь вследствие хромосомной патологии. В настоящем обзоре обсуждается современное состояние технологий преимплантационного генетического тестирования хромосомного статуса эмбрионов, сохраняющиеся в этой сфере проблемы, а также перспективные направления исследований, призванные дать решение возникающим вызовам. Prevention of chromosomal diseases through preimplantation genetic testing is an edge issue of current reproductive medicine and genetics. Embryo testing during in vitro fertilization cycles is designed to eliminate the transfer of aneuploid blastocysts, providing an increased probability of the take home babies, as well as reducing the risks of reproductive losses due to chromosomal abnormalities. The current state of the preimplantation genetic testing, its trends and perspectives are discussed.

scholarly journals Preimplantation Genetic Screening: A Practical Guide

2013 ◽  
Vol 7 ◽  
pp. CMRH.S10852 ◽  
Author(s):  
Paul R. Brezina ◽  
Raymond W. Ke ◽  
William H. Kutteh
Keyword(s):  
In Vitro Fertilization ◽  
Genetic Screening ◽  
Reproductive Medicine ◽  
Preimplantation Genetic Screening ◽  
Medical Genetics ◽  
Vitro Fertilization ◽  
New Era ◽  
The Past ◽  
Genetic Technologies

The past several decades have seen tremendous advances in the field of medical genetics. The application of genetic technologies to the field of reproductive medicine has ushered in a new era of medicine that is likely to greatly expand in the coming years. Concurrent with an in vitro fertilization (IVF) cycle, it is now possible to obtain a cellular biopsy from a developing embryo and genetically evaluate this sample with increasing sophistication and detail. Preimplantation genetic screening (PGS) is the practice of determining the presence of aneuploidy (either too many or too few chromosomes) in a developing embryo. However, how and in whom PGS should be offered is a topic of much debate.

scholarly journals Preimplantation genetic testing for aneuploidy in uterus transplant patients

2021 ◽  
Vol 15 ◽  
pp. 263349412110098
Author(s):  
Rhea Chattopadhyay ◽  
Elliott Richards ◽  
Valerie Libby ◽  
Rebecca Flyckt
Keyword(s):  
Genetic Testing ◽  
In Vitro Fertilization ◽  
Immunosuppressive Agents ◽  
Live Birth Rate ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Uterus Transplantation ◽  
Advantages And Disadvantages ◽  
Dilation And Curettage

Uterus transplantation is an emerging treatment for uterine factor infertility. In vitro fertilization with cryopreservation of embryos prior is required before a patient can be listed for transplant. Whether or not to perform universal preimplantation genetic testing for aneuploidy should be addressed by centers considering a uterus transplant program. The advantages and disadvantages of preimplantation genetic testing for aneuploidy in this unique population are presented. The available literature is reviewed to determine the utility of preimplantation genetic testing for aneuploidy in uterus transplantation protocols. Theoretical benefits of preimplantation genetic testing for aneuploidy include decreased time to pregnancy in a population that benefits from minimization of exposure to immunosuppressive agents and decreased chance of spontaneous abortion requiring a dilation and curettage. Drawbacks include increased cost per in vitro fertilization cycle, increased number of required in vitro fertilization cycles to achieve a suitable number of embryos prior to listing for transplant, and a questionable benefit to live birth rate in younger patients. Thoughtful consideration of whether or not to use preimplantation genetic testing for aneuploidy is necessary in uterus transplant trials. Age is likely a primary factor that can be useful in determining which uterus transplant recipients benefit from preimplantation genetic testing for aneuploidy.

scholarly journals Pericentric inversion (Inv) 9 variant—reproductive risk factor or benign finding?

2019 ◽  
Vol 36 (12) ◽  
pp. 2557-2561 ◽  
Author(s):  
Katrina Merrion ◽  
Melissa Maisenbacher
Keyword(s):  
Genetic Testing ◽  
Pericentric Inversion ◽  
Chromosome Rearrangement ◽  
Cohort Analysis ◽  
Chromosome 9 ◽  
Structural Rearrangements ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Aneuploidy Rate

Abstract Purpose To report the unbalanced chromosome rearrangement rate and overall aneuploidy rate in day 5/6 embryos from a series of patients who underwent in vitro fertilization (IVF) with preimplantation genetic testing for structural rearrangements (PGT-SR) for the pericentric inversion 9 variant, inv(9)(p11q13) or inv(9)(p12q13), with concurrent 24 chromosome preimplantation genetic testing for aneuploidy (PGT-A). Methods This was a retrospective cohort analysis. IVF cycles and embryo biopsies were performed by referring clinics. Fifty-two trophectoderm biopsy samples from seven couples were sent to a single lab for PGT-SR for an inversion 9 variant with concurrent 24 chromosome PGT-A using single-nucleotide polymorphism (SNP) microarrays with bioinformatics. Results The unbalanced rearrangement rate for this embryo cohort was 0/52 (0.0%); mean maternal age per embryo was 33.3 years (range 21–39 years). The overall euploid rate was 61.5% and aneuploidy rate was 38.5%. Conclusions Chromosome 9 pericentric inversions did not result in unbalanced structural rearrangements in day 5/6 embryo samples, supporting that this population variant is not associated with increased reproductive risks.

THE EFFECT OF OBESITY ON EUPLOIDY RATES IN WOMEN UNDERGOING IN VITRO FERTILIZATION (IVF) WITH PREIMPLANTATION GENETIC TESTING (PGT)

2020 ◽  
Vol 114 (3) ◽  
pp. e106
Author(s):  
Stephanie M. Hallisey ◽  
Reeva B. Makhijani ◽  
Jeffrey Thorne ◽  
Prachi N. Godiwala ◽  
John Nulsen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
In Vitro Fertilization ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Euploidy Rates
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