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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.


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


Preimplantation Genetic Testing for Monogenic/Single Gene Defects (PGT-M) for single gene disorders is the diagnosis of a genetic condition prior to achievement of a pregnancy. The examination of monogenic hereditary diseases (which appeared because of changes in a single gene). Preimplantation Genetic Diagnosis (PGD or PGT-M) is the unique method, offered by GG Hospital. If a woman or a man has a disease on the gene level, it is possible to define the precise localization of the problem and examine both the chromosome and the gene level to exclude such health problems for the unborn child.


  • Confirmed monogenic hereditary diseases, which are transmitted from generation to generation;
  • A monogenic disease has already been detected in one of the family children.