What is PGD?
Pre-implantation 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.
