Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

Simpson, Joe Leigh; Kuliev, Anver; Rechitsky, Svetlana

doi:10.1007/978-1-4939-8889-1_2

Cited by 27 publications

(17 citation statements)

References 108 publications

(120 reference statements)

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“…PGT-SR (structural rearrangements) is also widely used by couples which carry a balanced translocation or other structural rearrangement, in order to reduce the risk of miscarriage and to prevent disease associated with an unbalanced karyotype (4). PGT-M (monogenic disease) has also helped prevent many serious conditions in children born to at risk parents (5). Finally, as Edwards and Schulman predicted in 1996, testing embryos for polygenic disorders is now possible (6).…”

Section: Introductionmentioning

confidence: 99%

Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction

et al. 2019

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For over 2 decades preimplantation genetic testing (PGT) has been in clinical use to reduce the risk of miscarriage and genetic disease in patients with advanced maternal age and risk of transmitting disease. Recently developed methods of genome-wide genotyping and machine learning algorithms now offer the ability to genotype embryos for polygenic disease risk with accuracy equivalent to adults. In addition, contemporary studies on adults indicate the ability to predict polygenic disorders with risk equivalent to monogenic disorders. Existing biobanks provide opportunities to model the clinical utility of polygenic disease risk reduction among sibling adults. Here, we provide a mathematical model for the use of embryo screening to reduce the risk of type 1 diabetes. Results indicate a 45-72% reduced risk with blinded genetic selection of one sibling. The first clinical case of polygenic risk scoring in human preimplantation embryos from patients with a family history of complex disease is reported. In addition to these data, several common and accepted practices place PGT for polygenic disease risk in the applicable context of contemporary reproductive medicine. In addition, prediction of risk for PCOS, endometriosis, and aneuploidy are of particular interest and relevance to patients with infertility and represent an important focus of future research on polygenic risk scoring in embryos.

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Section: Introductionmentioning

confidence: 99%

Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction

et al. 2019

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“…The reason behind this trend is that more cells can be removed at this stage, which means there would be higher DNA yield to carry out more accurate diagnosis yet does not affect the blastocyst viability if appropriately performed by experienced hands. 11 , 14–17 Accordingly, much effort has been made to establish a feasible and widely applicable preimplantation genetic diagnosis procedure using advanced biopsy and genetic analysis techniques. In literature, various studies are focusing on the early detection of different types of epidermolysis bullosa.…”

Section: Discussionmentioning

confidence: 99%

“…With the advent of technologies in biology and medicine, the spectrum of PGD is remarkably expanded when approximately 500 different conditions have been interrogated worldwide. 11 In the case of DEB, not only are the pathogenic variants distributed over the entire gene making the process of screening COL7A1 gene time-consuming and expensive but also there have not been any effective treatments for the diseases. Thus, early prevention of DEB remains the only available option for families at risk for the recurrence of the disorder.…”

Section: Introductionmentioning

confidence: 99%

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

S¹,

Van²,

Thao³

et al. 2021

TACG

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Background: Epidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma. The disease manifests with noticeable symptoms ranging from mild to severe, classified into four major types: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB) and Kindler syndrome. Preimplantation genetic diagnosis for the disease remains the only available option for families at risk for the recurrence of the disorder without having to terminate an ongoing pregnancy. Materials and Methods: A novel COL7A1 mutation was used to design primers for the polymerase chain reaction (PCR) to amplify the segment spanning the mutation in the family and their in-vitro fertilization (IVF) embryos. Then, the PCR products were sequenced with Sanger sequencing to detect the alteration in the allele, and some embryos would go through NGS-based preimplantation screening for chromosomal abnormalities. Results: The established protocol for EB detected mutant allele in 6/9 embryos (66.6%), while the remaining 3 embryos (33.4%) appeared to not carry any mutation. Only one among 3 embryos was recommended to be transferred into the mother's uterus. Conclusion:The established preimplantation genetic diagnosis procedure is helpful to families affected by epidermolysis bullosa caused by COL7A1 mutations but wish to have healthy children.

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“…PGD enables couples at risk for heritable monogenic disorders to identify unaffected embryos for uterine transfer. 5 However, PGD delimits the number of transfer-eligible embryos. Concurrent advanced maternal age may further curtail the complement of transferrable embryos.…”

Section: Preimplantation Genetic Diagnosis (Pgd)mentioning

confidence: 99%

Disruptive Synergy: Melding of Human Genetics and Clinical Assisted Reproduction

Adashi

Cohen

2020

Cell Reports Medicine

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Summary The melding of human genetics with clinical assisted reproduction, now all but self-evident, gave flight to diagnostic and therapeutic approaches previously deemed infeasible. Preimplantation genetic diagnosis, mitochondrial replacement techniques, and remedial germline editing are particularly noteworthy. Here we explore the relevant disruption brought forth by coalescence of these mutually enabling disciplines with the regulatory and legal implications thereof.

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Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

Cited by 27 publications

References 108 publications

Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction

Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

Disruptive Synergy: Melding of Human Genetics and Clinical Assisted Reproduction

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