In Memoriam of Joy Dorothy Ann Delhanty

A special issue of DNA (ISSN 2673-8856).

Deadline for manuscript submissions: closed (1 February 2023) | Viewed by 13870

Special Issue Editors


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Guest Editor
EGA Institute for Women's Health, University College London, London, UK
Interests: human preimplantation development; preimplantation genetic testing; gene expression profiling; DNA repair

Special Issue Information

Dear Colleagues,

Joy Delhanty was a leading cytogeneticist and pioneer of Preimplantation Genetic Testing (PGT). She was an academic at Univeristy College London for the entirety of her career and most recently as Emeritus Professor. Sadly, she passed away in September 2021, and her last words were apparently “make sure you get this published.”  Joy and her lab are credited with performing the world’s first cytogenetic PGT, in describing the world’s first human triploid, Robertsonian translocations as a cause for Down syndrome and a body of seminal work on cancer mutations and embryo mosaicism.

To honour her last wish, this Special Issue, comprising largely of work from her many former students, celebrates her life with a selection of articles on genetics with a specific emphasis in early human development.

Prof. Dr. Darren Griffin
Dr. Sioban Sen Gupta
Guest Editors

Manuscript Submission Information

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Keywords

  • Genetics
  • Embryo
  • PGT
  • Mutation
  • IVF
  • Chromosome
  • Cytogenetics

Published Papers (3 papers)

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Review

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24 pages, 5228 KiB  
Review
PGT-SR: A Comprehensive Overview and a Requiem for the Interchromosomal Effect
by Darren K. Griffin and Cagri Ogur
DNA 2023, 3(1), 41-64; https://doi.org/10.3390/dna3010004 - 6 Mar 2023
Cited by 1 | Viewed by 7522
Abstract
Preimplantation genetic testing for structural rearrangements (PGT-SR) was one of the first applications of PGT, with initial cases being worked up in the Delhanty lab. It is the least well-known of the various forms of PGT but nonetheless provides effective treatment for many [...] Read more.
Preimplantation genetic testing for structural rearrangements (PGT-SR) was one of the first applications of PGT, with initial cases being worked up in the Delhanty lab. It is the least well-known of the various forms of PGT but nonetheless provides effective treatment for many carrier couples. Structural chromosomal rearrangements (SRs) lead to infertility, repeated implantation failure, pregnancy loss, and congenitally affected children, despite the balanced parent carrier having no obvious phenotype. A high risk of generating chromosomally unbalanced gametes and embryos is the rationale for PGT-SR, aiming to select for those that are chromosomally normal, or at least balanced like the carrier parent. PGT-SR largely uses the same technology as PGT-A, i.e., initially FISH, superseded by array CGH, SNP arrays, Karyomapping, and, most recently, next-generation sequencing (NGS). Trophectoderm biopsy is now the most widely used sampling approach of all PGT variants, though there are prospects for non-invasive methods. In PGT-SR, the most significant limiting factor is the availability of normal or balanced embryo(s) for transfer. Factors directly affecting this are rearrangement type, chromosomes involved, and sex of the carrier parent. De novo aneuploidy, especially for older mothers, is a common limiting factor. PGT-SR studies provide a wealth of information, much of which can be useful to genetic counselors and the patients they treat. It is applicable in the fundamental study of basic chromosomal biology, in particular the purported existence of an interchromosomal effect (ICE). An ICE means essentially that the existence of one chromosomal defect (e.g., brought about by malsegregation of translocation chromosomes) can perpetuate the existence of others (e.g., de novo aneuploidy). Recent large cohort studies of PGT-SR patients seem, however, to have laid this notion to rest, at least for human embryonic development. Unless new evidence comes to light, this comprehensive review should serve as a requiem. Full article
(This article belongs to the Special Issue In Memoriam of Joy Dorothy Ann Delhanty)
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Other

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5 pages, 188 KiB  
Opinion
Preimplantation Testing for Polygenic Disease (PGT-P): Brave New World or Mad Pursuit?
by Darren K. Griffin and Anthony T. Gordon
DNA 2023, 3(2), 104-108; https://doi.org/10.3390/dna3020008 - 10 May 2023
Cited by 1 | Viewed by 2864
Abstract
In preimplantation testing for monogenic disease (PGT-M), we are used to specific and directed diagnoses. Preimplantation testing for polygenic disease (PGT-P), however, represents a further level of complexity in that multiple genes are tested for with an associated polygenic risk score (PRS), usually [...] Read more.
In preimplantation testing for monogenic disease (PGT-M), we are used to specific and directed diagnoses. Preimplantation testing for polygenic disease (PGT-P), however, represents a further level of complexity in that multiple genes are tested for with an associated polygenic risk score (PRS), usually established by a genome-wide association study (GWAS). PGT-P has a series of pros and cons and, like many areas of genetics in reproductive medicine, there are vocal proponents and opponents on both sides. As with all things, the question needs to be asked, how much benefit does PGT-P provide in comparison to the risks involved? For each disease, a case will need to be made for PGT-P, as will a justification that the family involved will actually benefit; the worry is that this might be more work than the cost justifies. Full article
(This article belongs to the Special Issue In Memoriam of Joy Dorothy Ann Delhanty)
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5 pages, 874 KiB  
Obituary
One for Sorrow
by Darren K. Griffin
DNA 2021, 1(2), 105-109; https://doi.org/10.3390/dna1020011 - 20 Dec 2021
Viewed by 2090
Abstract
“Did it work [...] Full article
(This article belongs to the Special Issue In Memoriam of Joy Dorothy Ann Delhanty)
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