Counselling Issues around Preimplantation Genetic Diagnosis (PGD)

Sarah Ross, Guys Hospital, London, UK

Published online: April 2010

DOI: 10.1002/9780470015902.a0021789

Preimplantation genetic diagnosis (PGD) is a highly specialized process which involves using assisted reproductive techniques for a couple to increase their chances of having a child that is unaffected by a serious known genetic disorder. It requires a multidisciplinary team of professionals comprising specialists in both assisted reproduction and genetics.

Before a decision by a couple to undergo PGD treatment, the counsellor needs to assess their situation, discuss their genetic risk and the process of PGD including the advantages and disadvantages while taking into account the emotional, practical and financial issues. This should enable the couple to make an informed decision about whether PGD is the most appropriate treatment for them. Counselling opportunities arise during and after a treatment cycle ensuring that couples are supported and fully aware of the implications of decisions that need to be made at each stage of the process.

Key concepts:

  • Preimplantation genetic diagnosis involves using assisted reproductive techniques to obtain embryos which are then tested for a known genetic condition, before transfer to the uterus.
  • Assisted reproductive techniques used in PGD involve artificially stimulating the ovaries to release large numbers of eggs which are collected and then fertilized using in vitro fertilization (IVF) or intracytoplasmic sperm insertion (ICSI).
  • Genetic counselling is a communication process that is associated with the occurrence or risk of a genetic disorder in the family.
  • FISH analysis – fluorescent in situ hybridization is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. It uses fluorescent probes that bind to those parts of the chromosome that show a high degree of sequence similarity.
  • Preimplantation genetic haplotyping (PGH) involves taking a single cell and extracting DNA, which is then amplified before being used for DNA fingerprinting. PGH can be used where the exact mutation is not known or cannot be identified, as the technique scans for the presence of the genetic haplotype, which is associated with the familial disease gene region.

Keywords: preimplantation genetic diagnosis; assisted conception; genetic disorder; genetic counselling; molecular and cytogenetic testing

Figure 1. Cleavage stage biopsy. Courtesy of Eleanor Wharf, senior embryologist, Centre for Preimplantation Genetic Diagnosis, Guys Hospital.
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 References
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 Further Reading
    book Franklin S and Robert C (2006) Born and Made: An Ethnography of Preimplantation Genetic Diagnosis. Princeton, NJ: Princeton University Press.
    Goossens V, Harton G, Mouton C et al. (2009) ESHRE PGD Consortium data collection 1X; cycles from January–December 2006 with pregnancy follow up to October 2007. Human Reproduction 24(8): 1786–1810.
    ePath Human Fertilisation and Embryology Act 2008 . London: HMSO (www.opsi.gov.uk/acts/acts2008/pdf/ukpga_20080022_en.pdf)
    book Harper JC (ed.) (2009) Preimplantation Genetic Diagnosis, 2nd edn. New York: Cambridge University Press.

Related Sub-Topics:

Genetic Counseling | Bioethics
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Article Title: Counselling Issues around Preimplantation Genetic Diagnosis (PGD)
 
How to Cite close
Ross, Sarah(Apr 2010) Counselling Issues around Preimplantation Genetic Diagnosis (PGD). In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0021789]