Recent advances in preimplantation genetic diagnosis

Leung, KY

doi:10.12809/hkmj154638

Cited by 4 publications

(2 citation statements)

References 12 publications

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“…Potential parents’ decision whether to use RGTs such as PGD hinges on such key factors as “whether the embryos would be destroyed, the nature of the disease or trait being avoided or sought, technological control over ‘natural’ reproduction, the value of suffering, disability, and diversity, the importance of having genetically related children, and the type of future people desire[d] or fear[ed]” [ 49 ]. Ultimately, PGD has been experienced by potential parents as empowering, even while it subjects many to disappointment and distress [ 50 ].…”

Section: The Right To Disability: a Legal And Ethical Conceptmentioning

confidence: 99%

CRISPR, a Crossroads in Genetic Intervention: Pitting the Right to Health against the Right to Disability

Benston

2016

Laws

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Reproductive genetic technologies (RGTs), including gene-editing technology, are being discovered and refined at an exponential pace. One gene-editing innovation that demands our swift attention is CRISPR/Cas9, a system of clustered regularly interspaced short palindromic repeats and a protein called Cas9. As CRISPR and other RGTs continue being developed, we must remain vigilant concerning the potential implications of genetic-engineering technology on our interpersonal and legal relationships. In the face of increasingly numerous and refined RGTs, we must maintain the rights of everyone: potential parents, prospective children, and individuals (both living and prospective) with disabilities. For those who wish to become parents, how should procreation be regulated in light of developing RGTs, especially gene-editing technology? What duties do parents owe their children, and when does such a duty attach? What role should RGTs play in parents’ fulfillment of their duties to their children? This article will contextualize the right to health and what I will term the “right to disability” in the CRISPR/Cas9 landscape. The article will then explore these rights in reference to the “subjunctive-threshold” interpretation of harm. Finally, I will argue that RGTs must be thoughtfully regulated, with such regulations taking into account the opinions of geneticists, bioethicists, and lay people concerning both the right to health and the right to disability.

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Section: The Right To Disability: a Legal And Ethical Conceptmentioning

confidence: 99%

CRISPR, a Crossroads in Genetic Intervention: Pitting the Right to Health against the Right to Disability

Benston

2016

Laws

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“…Because only one or a few cells from each human preimplantation embryo can be used for embryo biopsy, problems such as contamination, allele drop-out (ADO), amplification failure and preferential amplification (PA) are inevitable in single-cell PCR 3 . Comparatively speaking, whole-genome amplification (WGA) combined with single-cell genomics methodologies have become a more effective way to reduce the incidence of these types of problems 4 5 6 .…”

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confidence: 99%

Identification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotyping

Chen

Zhang

et al. 2016

Sci Rep

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Here, we evaluate the applicability of a new method that combines targeted next-generation sequencing (NGS) with targeted haplotyping in identifying PKD2 gene mutations in human preimplantation embryos in vitro. To achieve this goal, a proband family with a heterozygous deletion of c.595_595 + 14delGGTAAGAGCGCGCGA in exon 1 of the PKD2 gene was studied. A total of 10 samples were analyzed, including 7 embryos. An array-based gene chip was designed to capture all of the exons of 21 disease-related genes, including PKD2. We performed Sanger sequencing combined with targeted haplotyping to evaluate the feasibility of this new method. A total of 7.09 G of data were obtained from 10 samples by NGS. In addition, 24,142 informative single-nucleotide polymorphisms (SNPs) were identified. Haplotyping analysis of several informative SNPs of PKD2 that we selected revealed that embryos 3, 5, and 6 did not inherit the mutation haplotypes of the PKD2 gene, a finding that was 100% accurate and was consistent with Sanger sequencing. Our results demonstrate that targeted NGS combined with targeted haplotyping can be used to identify PKD2 gene mutations in human preimplantation embryos in vitro with high sensitivity, fidelity, throughput and speed.

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Reproductive outcome following pre-implantation genetic diagnosis (PGD) in the UK

2017

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In 2013, the National Health Service Commissioning board centralized the funding in England for up to three cycles of pre-implantation genetic diagnosis (PGD) for couples who have, or are carriers of, a specific genetic disorder. This study presents the historical data of PGD cycles and their clinical outcomes in UK as extrapolated from the national data registry. Retrospective analysis of outcome of cycles undergoing pre-implantation genetic diagnosis in the UK over the past 20 years was performed from the Human Fertilisation and Embryology Authority database (n = 2974). Binary logistic regression was used to determine trends over time and adjusted for maternal age. Briefly, the number of PGD cycles has risen 127-fold from 1991 to 2012 with 3.6-fold increase (360% rise) from 2004 to 2012. A total of one in four embryos following pre-implantation genetic diagnosis did not reach embryo transfer and 92% of these were due to a failure to survive. The live birth rate has risen over 20 years and there has been a steady decline in reported incidence of congenital abnormalities (p< 0.07). PGD has thus emerged as a safe and effective alternative to prenatal diagnosis but with ever evolving technological advances, a robust system of data collection that incorporates techniques used and reporting of mutation-specific clinical outcomes is suggested.

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Recent advances in preimplantation genetic diagnosis

Cited by 4 publications

References 12 publications

CRISPR, a Crossroads in Genetic Intervention: Pitting the Right to Health against the Right to Disability

CRISPR, a Crossroads in Genetic Intervention: Pitting the Right to Health against the Right to Disability

Identification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotyping

Reproductive outcome following pre-implantation genetic diagnosis (PGD) in the UK

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