Pre-implantation Genetic Diagnosis (PGD) is the method of detecting inherited mutations in an embryo which have already been documented in the parents with the aim to prevent further transmission of the disease in the family.

For couples undergoing IVF, preimplantation genetic diagnosis may be recommended when:

  • One or both partners has a history of heritable genetic disorders
  • One or both partners is a carrier of a chromosomal abnormality

It is important to note, that prior to undergoing PGD procedures, the genetic disorder and its causative mutation has to be well documented by the lab conducting the PGD.

PGD for Monogenic Diseases

Preimplantation Genetic Diagnosis (PGD) for single gene diseases allows the specific selection of embryos without any mutation before implantation. This is for couples who wish to have a healthy child, and are at increased risk to have a pregnancy with a specific genetic disease.

List of Common disorders:

  • Autosomal – dominant polycystic kidney disease
  • Autosomal – recessive polycystic kidney disease
  • Cystic Fibrosis
  • Becker’s muscular dystrophy
  • Beta thalassemia
  • Congenital adrenal hyperplasia (gene CYP21A2)
  • Charcot – Marie – Tooth disease type 1A
  • Familial amyloid polyneuropathy
  • Fragile – X syndrome
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Huntington’s disease
  • Multiple endocrine neoplasia, type 2A
  • Myotonic dystrophy(Steinert’s disease)
  • RhD incompatibility
  • Spinal muscular atrophy
  • X-linked adrenoleukodystrophy
  • Marfan’s disease
  • Duchenne Muscular dystrophy
  • Thalassemia
  • Tay Sachs
  • Sickle cell anemia
  • Citrullinemia