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Counselling Issues around Preimplantation Genetic Diagnosis (PGD)

  1. Sarah Ross

Published Online: 19 APR 2010

DOI: 10.1002/9780470015902.a0021789



How to Cite

Ross, S. 2010. Counselling Issues around Preimplantation Genetic Diagnosis (PGD). eLS. .

Author Information

  1. Guys Hospital, London, UK

Publication History

  1. Published Online: 19 APR 2010

This is not the most recent version of the article. View current version (15 JUL 2016)


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.


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