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Chromosomal Preimplantation Genetic Diagnosis: 25 Years and Counting.

Sanders, Kathryn D., Griffin, Darren K. (2017) Chromosomal Preimplantation Genetic Diagnosis: 25 Years and Counting. Journal of Fetal Medicine, 4 (2). pp. 51-56. ISSN 2348-1153. (doi:10.1007/s40556-017-0123-5) (KAR id:61544)

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Preimplantation genetic diagnosis (PGD), first successfully carried out in humans in the early 1990s, initially involved the PCR sexing of embryos by Y- (and later also X-) chromosome specific detection. Because of the problems relating to misdiagnosis and contamination of this technology however the PCR based test was superseded by a FISH-based approach involving X and Y specific probes. Sexing by FISH heralded translocation screening, which was shortly followed by preimplantation genetic screening (PGS) for Aneuploidy. Aneuploidy is widely accepted to be the leading cause of implantation failure in assisted reproductive technology (ART) and a major contributor to miscarriage, especially in women of advanced maternal age. PGS (AKA PGD for aneuploidy PGD-A) has had a chequered history, with conflicting lines of evidence for and against its use. The current practice of trophectoderm biopsy followed by array CGH or next generation sequencing is gaining in popularity however as evidence for its efficacy grows. PGS has the potential to identify viable embryos that can be transferred thereby reducing the chances of traumatic failed IVF cycles, miscarriage or congenital abnormalities and facilitating the quickest time to live birth of chromosomally normal offspring. In parallel to chromosomal diagnoses, technology for PGD has allowed for improvements in accuracy and efficiency of the genetic screening of embryos for monogenic disorders. The number of genetic conditions available for screening has increased since the early days of PGD, with the human fertilization and embryology authority currently licensing 419 conditions in the UK [1]. A novel technique known as karyomapping that involves SNP chip screening and tracing inherited chromosomal haploblocks is now licensed for the PGD detection of monogenic disorders. Its potential for the universal detection of chromosomal and monogenic disorders simultaneously however, has yet to be realized.

Item Type: Article
DOI/Identification number: 10.1007/s40556-017-0123-5
Uncontrolled keywords: Preimplantation genetic screening, Preimplantation genetic diagnosis, Aneuploidy, Fluorescent in situ hybridization, Karyomapping, Next generation sequencing
Subjects: Q Science
Divisions: Divisions > Division of Natural Sciences > School of Biosciences
Depositing User: Susan Davies
Date Deposited: 25 Apr 2017 08:11 UTC
Last Modified: 23 Jan 2020 04:13 UTC
Resource URI: (The current URI for this page, for reference purposes)
Griffin, Darren K.:
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