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

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.

2017 ◽  
Vol 70 (9-10) ◽  
pp. 325-331
Author(s):  
Jelena Vukosavljevic ◽  
Aleksandra Trninic-Pjevic ◽  
Artur Bjelica ◽  
Ivana Jagodic ◽  
Vesna Kopitovic ◽  
...  

Introduction. Numerical aberrations (whole chromosomal aneuploidy) have been considered one of the most important factors leading to implantation failure and early miscarriages in patients undergoing assisted reproductive procedures. Embryo selection is mainly based on morphological assessment; however, embryos produced from aneuploid gametes cannot be distinguished from euploid based on morphological characteristics. Detection of aneuploidy in human embryos. Thanks to the introduction of molecular-genetic screening of embryos, it is possible to identify aneuploid embryos via preimplantation genetic screening/diagnosis and thus select the best embryos based on their ploidy. Array comparative genomic hybridization is a molecular technique which allows ploidy analysis of the entire genome amplification from a single cell, within 24 hours after polar body, blastomere or trophectoderm cell biopsy. Trophectoderm cell biopsy is considered the most reliable screening approach given the lower mosaicism appearance at the blastocyst stage. Conclusion. This paper points to the importance and necessity of molecular analysis in embryo selection. Further investigations and improvements are required, because this technology has only recently become available in clinical practice in the in vitro fertilization procedure.


2019 ◽  
Vol 70 (3) ◽  
pp. 18-23
Author(s):  
Ivana Stojić ◽  
Jelena Vukosavljević ◽  
Slobodan Maričić ◽  
Miloš Vuković ◽  
Stefan Stojanoski ◽  
...  

Author(s):  
Aisha Elaimi

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.


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