scholarly journals The Technological Advances in Embryo Selection and Genetic Testing: A Look Back at the Evolution of Aneuploidy Screening and the Prospects of Non-Invasive PGT

2021 ◽  
Vol 2 (1) ◽  
pp. 26-34
Author(s):  
Channing Burks ◽  
Kristin Van Heertum ◽  
Rachel Weinerman
Keyword(s):  
Genetic Testing ◽  
Subsequent Development ◽  
Embryo Selection ◽  
Human Embryos ◽  
Comparative Genomic ◽  
Aneuploidy Screening ◽  
Preimplantation Genetic Testing ◽  
Blastomere Biopsy ◽  
Non Invasive ◽  
Technological Advances

Since the birth of the first IVF baby, Louise Brown, in 1978, researchers and clinicians have sought ways to improve pregnancy outcomes through embryo selection. In the 1990s, blastomere biopsy and fluorescence in situ hybridization (FISH) were developed in human embryos for the assessment of aneuploidy and translocations. Limitations in the number of chromosomes that could be assayed with FISH lead to the development of comparative genomic hybridization (CGH); however, pregnancy rates overall were not improved. The later development of trophectoderm biopsy with comprehensive chromosome screening (CCS) technologies, as well as the subsequent development of next-generation sequencing (NGS), have shown much greater promise in improving pregnancy and live birth rates. Recently, many studies are focusing on the utilization of non-invasive preimplantation genetic testing (niPGT) in an effort to assess embryo ploidy without exposing embryos to additional interventions.

scholarly journals The impact of aneuploidy screening for embryo selection in preimplantation genetic testing for monogenenic disorders

2018 ◽  
Vol 110 (4) ◽  
pp. e143-e144
Author(s):  
A. Bartoli ◽  
A. King ◽  
K. Hornberger ◽  
D. Klepacka ◽  
D. Young ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Embryo Selection ◽  
Aneuploidy Screening ◽  
Preimplantation Genetic Testing ◽  
The Impact

scholarly journals A Non-invasive Chromosome Screening Strategy for Prioritizing in vitro Fertilization Embryos for Implantation

2021 ◽  
Vol 9 ◽  
Author(s):  
Li Chen ◽  
Qin Sun ◽  
Juanjuan Xu ◽  
Haiyan Fu ◽  
Yuxiu Liu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Predictive Value ◽  
Large Scale ◽  
Human Embryos ◽  
Clinical Practices ◽  
Preimplantation Genetic Testing ◽  
Invasive Approach ◽  
Vitro Fertilization ◽  
Non Invasive

Preimplantation genetic testing for aneuploidy (PGT-A) is widely used to select embryos having normal ploidy for transfer, but they require an invasive embryo biopsy procedure that may cause harm to the embryos and offspring. Therefore, a non-invasive approach to select embryos with normal ploidy for implantation is highly demanded. Non-invasive chromosome screening (NICS) methods have been proposed and applied in clinical practices, but a large-scale validation versus invasive preimplantation genetic testing (PGT) and the whole embryo ploidy has not yet been reported. In this study, by using the whole embryo as a gold standard, we validated NICS assay in a total of 265 donated human embryos and compared its performance with conventional trophectoderm (TE) biopsy PGT. The NICS assay showed promising performance, which is comparable to PGT-TE [sensitivity: 87.36 versus 89.66%; specificity: 80.28 versus 82.39%; negative predictive value (NPV): 91.2 versus 92.86%; positive predictive value (PPV): 73.08 versus 75.73%]. Additionally, NICS provides a scoring system for prioritizing embryo: embryos can be categorized into three groups with euploid prediction probabilities of 90.0, 27.8, and 72.2% for group euploid (A), aneuploid (B), and multiple abnormal chromosomes (MAC) (C), respectively. When an addition of TE assay is provided as a secondary validation, the accuracy significantly increases from 72.2 to 84.3% for group B and from 27.8 to 83.3% for group C. Our results suggest that NICS is a good rule in assay for identifying chromosomal normal embryos for transfer and might serve as a non-invasive approach for prioritizing embryos instead of preventing transfer of aneuploid and MAC embryos. It will help to ensure the safety of offspring and efficient utilization of embryos.

scholarly journals Non-invasive pre-implantation genetic testing of human embryos: an emerging concept

2018 ◽  
Vol 33 (12) ◽  
pp. 2162-2167 ◽  
Author(s):  
C Farra ◽  
F Choucair ◽  
J Awwad
Keyword(s):  
Genetic Testing ◽  
Human Embryos ◽  
Non Invasive

scholarly journals Preimplantation Genetic Testing for Polygenic Disease Relative Risk Reduction: Evaluation of Genomic Index Performance in 11,883 Adult Sibling Pairs

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 648 ◽  
Author(s):  
Nathan R. Treff ◽  
Jennifer Eccles ◽  
Diego Marin ◽  
Edward Messick ◽  
Louis Lello ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Relative Risk ◽  
Risk Reduction ◽  
Relative Risk Reduction ◽  
Embryo Selection ◽  
Type I ◽  
Preimplantation Genetic Testing ◽  
Sibling Pairs ◽  
Polygenic Disease ◽  
Diabetes Status

Preimplantation genetic testing for polygenic disease risk (PGT-P) represents a new tool to aid in embryo selection. Previous studies demonstrated the ability to obtain necessary genotypes in the embryo with accuracy equivalent to in adults. When applied to select adult siblings with known type I diabetes status, a reduction in disease incidence of 45–72% compared to random selection was achieved. This study extends analysis to 11,883 sibling pairs to evaluate clinical utility of embryo selection with PGT-P. Results demonstrate simultaneous relative risk reduction of all diseases tested in parallel, which included diabetes, cancer, and heart disease, and indicate applicability beyond patients with a known family history of disease.

scholarly journals In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 697
Author(s):  
Bogdan Doroftei ◽  
Loredana Nemtanu ◽  
Ovidiu-Dumitru Ilie ◽  
Gabriela Simionescu ◽  
Iuliu Ivanov ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Congenital Disorder ◽  
In Vitro Fertilisation ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Preimplantation Genetic Testing ◽  
Congenital Disorder Of Glycosylation ◽  
Monogenic Diseases ◽  
Type Ia

Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene PMM2, having a mortality rate of 20% during the first months of life. Results: Here we report the outcome of an in vitro fertilisation (IVF) cycle associated with preimplantation genetic testing for monogenic diseases (PGT-M) in a Romanian carrier couple for CDG type Ia with distinct mutations of the PMM2 gene. The embryonic biopsy was performed on day five of the blastocyst stage for six embryos. The amplification of the whole genome had been realized by using the PicoPLEX WGA kit. Using the Array Comparative Genomic Hybridisation technique, we detected both euploid and aneuploid embryos. The identification of the PMM2 mutation on exon 5 and exon 6 was performed for the euploid embryos through Sanger Sequencing with specific primers on ABI 3500. Of the six embryos tested, only three were euploid. One had compound heterozygosity and the remaining two were simple heterozygotes. Conclusion: PGT-M should be strongly considered for optimising embryo selection in partners with single-gene mutations in order to prevent transmission to the offspring.

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