Preimplantation genetic testing: Its evolution, where are we today?

Parikh, Firuza R.; Athalye, Arundhati S.; Naik, Nandkishor J.; Naik, Dattatray; Sanap, Rupesh R.; Madon, Prochi F.

doi:10.4103/jhrs.jhrs_132_18

Cited by 39 publications

(18 citation statements)

References 57 publications

(49 reference statements)

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“…In the late 1990s, 1 the development of preimplantation genetic diagnosis (or PGD) made it possible to test in vitro fertilised (IVF) embryos for known genetic diseases and select only unaffected embryos for implantation. Some 20 years later, it is now commonplace for IVF embryos to be tested for monogenic disorders and/or chromosomal disorders such as Down syndrome.…”

Section: Preimplantation Genetic Diagnosis and Reproductionmentioning

confidence: 99%

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Three models for the regulation of polygenic scores in reproduction

Munday

Savulescu

2021

J Med Ethics

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The past few years have brought significant breakthroughs in understanding human genetics. This knowledge has been used to develop ‘polygenic scores’ (or ‘polygenic risk scores’) which provide probabilistic information about the development of polygenic conditions such as diabetes or schizophrenia. They are already being used in reproduction to select for embryos at lower risk of developing disease. Currently, the use of polygenic scores for embryo selection is subject to existing regulations concerning embryo testing and selection. Existing regulatory approaches include ‘disease-based' models which limit embryo selection to avoiding disease characteristics (employed in various formats in Australia, the UK, Italy, Switzerland and France, among others), and 'laissez-faire' or 'libertarian' models, under which embryo testing and selection remain unregulated (as in the USA). We introduce a novel 'Welfarist Model' which limits embryo selection according to the impact of the predicted trait on well-being. We compare the strengths and weaknesses of each model as a way of regulating polygenic scores. Polygenic scores create the potential for existing embryo selection technologies to be used to select for a wider range of predicted genetically influenced characteristics including continuous traits. Indeed, polygenic scores exist to predict future intelligence, and there have been suggestions that they will be used to make predictions within the normal range in the USA in embryo selection. We examine how these three models would apply to the prediction of non-disease traits such as intelligence. The genetics of intelligence remains controversial both scientifically and ethically. This paper does not attempt to resolve these issues. However, as with many biomedical advances, an effective regulatory regime must be in place as soon as the technology is available. If there is no regulation in place, then the market effectively decides ethical issues.

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Section: Preimplantation Genetic Diagnosis and Reproductionmentioning

confidence: 99%

“…Some 20 years later, it is now commonplace for IVF embryos to be tested for monogenic disorders and/or chromosomal disorders such as Down syndrome. 1 Moreover, testing is also available during non-IVF pregnancies.…”

Section: Preimplantation Genetic Diagnosis and Reproductionmentioning

confidence: 99%

Three models for the regulation of polygenic scores in reproduction

Munday

Savulescu

2021

J Med Ethics

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“…Based on the recommendations given by the Practice Committee of the American Society for Reproductive Medicine (ASRM) and the Practice Committee of the Society for Assisted Reproductive Technology (SART) published in April 2017 and PGT consensus group, single euploid cleavage-stage or blastocyst embryo should be transferred irrespective of the age group. [ 8 9 ]…”

Section: How To Use Euploid Embryosmentioning

confidence: 99%

Indian society for assisted reproduction consensus guidelines on preimplantation genetic testing in in vitro fertilization clinics

Malhotra¹,

Malhotra²,

Majumdar

et al. 2021

J Hum Reprod Sci

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Study Question: What are the good practice guidelines for Pre implantation genetic testing applicable in INDIA? What is Already Known: Pre-Implantation Genetic Testing (PGT) is not new in India. It is used to identify euploid embryos for transfer, thus enabling couples to achieve a healthy pregnancy. There has been a lot of controversy surrounding PGT in the international forums; most of these debates have failed to reach a consensus on whether PGT should be offered or its concerns be validated more. Study Design, Size, Duration: This is the report of a 2-day consensus meeting where two moderators were assigned to a group of experts to collate information on Pre implantation genetic testing and embryo biopsy practices in INDIA. This meeting utilised surveys, available scientific evidence and personal laboratory experience into various presentations by experts on pre-decided specific topics. Participants/Materials, Setting, Methods: Expert professionals from ISAR representing clinical, embryological and genetic fields. Main Results and the Role of Chance: The report is divided into various components defining the terminologies, the various requirements, qualifications, recommendations on PGT -A,M,SR, and quality management: the report and recommendations of the expert panel reflect the discussion on each of the topics and try to lay down good practice points for labs to follow. Limitations, Reasons for Caution: The recommendations are solely based on expert opinion. Future availability of data may warrant an update of the same. Wider Implications of the Findings: These guidelines can help labs across the country to standardise their PGT services and improve clinical outcomes. Study Funding/Competing Interest(S): The consensus meeting and writing of the paper was supported by funds from CooperSurgical India.

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“…Thus, PGT has become one of the principal modalities utilized by fertility clinics for embryo selection. Other technological advancements, such as intracytoplasmic sperm injection (ICSI), improvements in embryo culture techniques, and the advent of embryo vitrification, have undoubtedly improved outcomes as well and have in part allowed for the increasingly successful developments in PGT over the years [5]. Currently, PGT is being used for assessing chromosomal aneuploidy (PGT-A), structural rearrangements such as translocations (PGT-SR) as well as in assessing embryos for monogenetic disorders (PGT-M).…”

Section: Introductionmentioning

confidence: 99%

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

Burks

Heertum

Weinerman³

2021

Reprod. Med.

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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.

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Preimplantation genetic testing: Its evolution, where are we today?

Cited by 39 publications

References 57 publications

Three models for the regulation of polygenic scores in reproduction

Three models for the regulation of polygenic scores in reproduction

Indian society for assisted reproduction consensus guidelines on preimplantation genetic testing in in vitro fertilization clinics

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

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