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Rechitsky, Svetlana; Strom, Charles M.; Verlinsky, Oleg; Amet, T.; Ivakhnenko, V.; Kukharenko, V. I.; Kuliev, Anver; Verlinsky, Yury

doi:10.1023/a:1020312823155

Cited by 79 publications

(4 citation statements)

References 9 publications

(5 reference statements)

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“…At the start of PGT-M in the early 1990s, single cell simplex PCR amplification was applied. From these earliest approaches, contamination and allele drop out (ADO) surfaced as important issues that could lead to misdiagnosis [39]. Contamination with extraneous DNA or carry-over from previous amplification reactions was and still is a major problem, given the high number of amplification cycles that is required to increase the minute amount of DNA.…”

Section: Early Methods Of Pgt-mmentioning

confidence: 99%

Preimplantation Genetic Testing for Monogenic Disorders

Rycke

Berckmoes

2020

Genes

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Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications for which PGT is allowed may vary substantially from country to country, depending on PGT regulation. Technically, the switch from multiplex PCR to robust generic workflows with whole genome amplification followed by SNP array or NGS represents a major improvement of the last decade: the waiting time for the couples has been substantially reduced since the customized preclinical workup can be omitted and the workload for the laboratories has decreased. Another evolution is that the generic methods now allow for concurrent analysis of PGT-M and PGT-A. As innovative algorithms are being developed and the cost of sequencing continues to decline, the field of PGT moves forward to a sequencing-based, all-in-one solution for PGT-M, PGT-SR, and PGT-A. This will generate a vast amount of complex genetic data entailing new challenges for genetic counseling. In this review, we summarize the state-of-the-art for PGT-M and reflect on its future.

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Section: Early Methods Of Pgt-mmentioning

confidence: 99%

Preimplantation Genetic Testing for Monogenic Disorders

Rycke

Berckmoes

2020

Genes

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“…Initially, the goal was direct amplification of target DNA regions of interest 36 while later it evolved to analyzing polymorphic sequences, copy number variations, and aneuploidies with improved amplification approaches like whole genome amplification (WGA). 37 There were identified various limitations with direct PCR, such as contamination, which may cause false-positive results, amplification bias, introduction of DNA sequence errors, and allele dropout during amplification, all of which can lead to misdiagnoses. There are ways to try and surpass them, for example simultaneously amplify and test for polymorphisms closely linked to the target DNA region and test parental haplotypes.…”

Section: Diagnostic Strategiesmentioning

confidence: 99%

Preimplantation genetic testing: A narrative review

Fernandes,

de Carvalho

2024

Porto Biomedical Journal

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Preimplantation genetic testing (PGT) is a diagnostic procedure that has become a powerful complement to assisted reproduction techniques. PGT has numerous indications, and there is a wide range of techniques that can be used, each with advantages and limitations that should be considered before choosing the more adequate one. In this article, it is reviewed the indications for PGT, biopsy and diagnostic technologies, along with their evolution, while also broaching new emerging methods.

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“…Clinical outcomes after transfer of euploid blastocysts in fresh IVF cycles have been proven equivalent with the outcome of vitrified blastocyst transfer cycles. Figure 1 gives an overview of past, present and future methods for PGT-M. At the start of PGT-M in the early nineties, simplex PCR amplification (two rounds with nested or hemi-nested primers) for detection of the mutation was applied (Rechitsky et al 1999). If the mutation did not generate a difference in amplicon fragment length, digestion with suitable restriction enzymes was used for differentiation of WT and mutant alleles.…”

Section: Icsi Embryo Biopsy Transfer and Cryopreservationmentioning

confidence: 99%

PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing

et al. 2020

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Thirty years of rapid technological advances in the field of genetic testing and assisted reproduction have reshaped the procedure of preimplantation genetic testing (PGT). The development of whole genome amplification and genome-wide testing tools together with the implementation of optimal hormonal stimulation protocols and more efficient cryopreservation methods have led to more accurate diagnoses and improved clinical outcomes. In addition, the shift towards embryo biopsy at day 5/6 has changed the timeline of a typical PGT clinical procedure. The Brussels' PGT centre started more than 25 years ago, offering PGT within a healthcare system funded by the government. In this paper, we have summarized our experience with PGT, presenting an up-to-date overview of the different steps in PGT from patient referral to baby follow-up.

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Abstract: A high accuracy of preimplantation genetic diagnosis of single-gene disorders is achieved by application of sequential analysis of the first and second polar body and multiplex polymerase chain reaction.

Cited by 79 publications

References 9 publications

Preimplantation Genetic Testing for Monogenic Disorders

Preimplantation Genetic Testing for Monogenic Disorders

Preimplantation genetic testing: A narrative review

PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing

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