What is PGD? Preimplantation Genetic Diagnosis in an IVF cycle

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Preimplantation Genetic Diagnosis (PGD) is a technology which allows genetic testing of an embryo prior to implantation and before pregnancy occurs. It is used in conjunction with IVF and allows only those embryos diagnosed as being free of a specific genetic disorder to be transferred into a woman for pregnancy.

Who might benefit from PGD?

Some couples are at risk of transmitting an inherited disease to their children – such as Cystic Fibrosis, Thalassaemia and Fanconi Anaemia. Until PGD, if couples wished to avoid having a child with a life threatening or severely debilitating disorder, their options were not to become pregnant, or to become pregnant and undergo pre-natal diagnosis via either amniocentesis or chorionic villus sampling (CVS) at between 11 – 16 weeks of pregnancy. If the foetus was affected then the couple had the difficult decision of whether or not to continue with the pregnancy. PGD is performed before implantation making it the earliest form of prenatal diagnosis before the couple embark on a pregnancy.

Diseases we can test for

Some examples of the diseases we can test for:

  • Agammaglobulinemia-Bruton
  • Alport Syndrome
  • Beta Thalassaemia
  • Bloom Syndrome
  • Canavan Disease
  • Charcot Marie Tooth Neuropathy
  • Cong. Erythropoietic Porphyria
  • Cystic Fibrosis
  • Duchenne Muscular Dystrophy
  • Dystrophy Myotonica
  • Emery-Dreifuss Muscular Dystrophy
  • Fanconi Anaemia
  • Fragile X
  • Friedreich Ataxia
  • Gaucher Disease
  • Haemophilia
  • HLA Typing
  • Hunter Syndrome
  • Huntington Disease
  • Hurler Syndrome
  • Lesch-Nyhan
  • Li-Fraumeni Syndrome
  • Marfan Syndrome
  • Menkes
  • Neurofibromatosis
  • Niemann-Pick Type C
  • Osteogenesis Imperfecta
  • Polycystic Kidney Disease
  • Retinoblastoma 1
  • Sanfilippo A
  • Sickle Cell
  • Spinal Muscular Atrophy
  • Tay-Sachs
  • Treacher Collins
  • Tuberous Sclerosis
  • Wiskott-Aldrich Syndrome

This list is not exhaustive as Genesis Genetics is able to test for an extensive range of conditions. If you come to us, we will do everything we can to help you build a healthy family.

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Support Organisations

View a list of website links to organisations which provide support to individuals with genetic conditions and their families

Support Organisations

CARE Fertility Pioneering Firsts

1978 - World's first IVF baby

1981 - First male factor patient treated

1982 - World's first baby delivered after intrauterine sperm/egg transfer

1984 - World's first baby from blastocyst transfer

1990 - World's first baby born after micro-injection

1992 - Britain's first SUZI treatment baby

1992 - Britain's first "sugar drop" frozen embryo baby

1996 - World's first testicular spermatid baby

2007 - Europe's first baby born following embryo screening using Comparative Genomic Hybridisation (CGH)

2009 - Birth of World's First baby following array CGH screening

2010 - UK's first baby born through PGD for HLA tissue matching

2010 - Blastocyst Chromosome Screening - UK's first baby born

2010 - First multi-factorial genetic chromosome tissue typing and translocation analysis of embryos in an IVF cycle

2010 - First UK based total treatment cycle for PGD and HLA Tissue Matching - Fanconi Anaemia

2011 - First UK pregnancy following use of an Embryoscope

All CARE Fertility Pioneering Firsts

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