Counselling Issues around Preimplantation Genetic Diagnosis

Abstract

Preimplantation genetic diagnosis (PGD) is a highly specialised process that uses assisted reproductive techniques to help couples increase their chances of having a child that is unaffected by a serious known genetic disorder. It requires a multidisciplinary team of professionals including 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 uses assisted reproductive techniques to obtain embryos that are then tested for a known serious 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 fertilised using in vitro fertilisation (IVF) or in most cases, intracytoplasmic sperm insertion (ICSI).
  • Genetic counselling is a communication process that focuses on the occurrence or risk of a genetic disorder in the family.
  • FISH analysis – fluorescent in situ hybridisation is a cytogenetic technique used to detect and localise the presence or absence of specific DNA sequences on chromosomes. It uses fluorescent probes that bind to 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 long as the correct gene is identified, because the technique scans for the presence of the genetic haplotype that is associated with the familial disease gene region.
  • Array CGH (comparative genomic hybridisation) is a laboratory technique used to look for alterations in chromosomes that are too small to see down a microscope.

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

References

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Further Reading

Braude P and Flinter F (2007) Use and misuse of preimplantation genetic testing. British Medical Journal 335 (7623): 752–754.

Cunningham J, Goldsmith L and Skirton H (2015) The evidence base regarding the experiences of and attitudes to Preimplantation genetic diagnosis in prospective parents. Midwifery 31 (2): 288–296.

ESHRE (2016) Assisted reproductive technology in Europe 2011. Human Reproduction 31 (2): 233–248.

Mackie Ogilvie C and Scriven P (2004) Preimplantation genetic diagnosis (PGD) for reciprocal translocations. Comment. Prenatal Diagnosis 24 (7): 553–555.

Rubin LR, Werner‐Lin A, Sagi M, et al. (2014) ‘The BRCA clock is ticking!’: negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis. Human Fertility (Cambridge, England) 17 (3): 159–164.

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How to Cite close
Ross, Sarah(Jul 2016) Counselling Issues around Preimplantation Genetic Diagnosis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0021789.pub2]