Inherited illnesses,
the stories of the past.

While PGS helps in identifying embryos with normal chromosome counts, PGD ensures that the selected embryos are free from any kind of inherited genetic disorders. PGD is performed for the diagnosis of single gene disorders that can be passed on to the next generation. PGD can aid in the identification of over 400 single gene disorders including Sickle cell anaemia, Cystic Fibrosis, Tay Sachs, Fragile X, Myotonic Dystrophy and Thalassemia.

When is PGD

The couples with a history of genetic disorders in their families should undergo PGD.

Fertile couples with a family history of single gene disorders can also opt for an IVF cycle coupled with PGD.


  • PGD enables examination of single gene mutations and individual carriers of diseases such as cystic fibrosis, sickle cell anaemia etc.
  • Test is customised based on the nature of genetic disorder often associated with patient’s family medical history. The genetic fingerprint of the mutation can be seen in the embryos (if any) so that the affected embryos can be avoided.
  • PGS is always coupled with PGD, therefore chromosomal number variations are also tested.
  • PGD can be applied to test for almost any genetic condition that has been diagnosed in the parents, where a specific gene is known to cause that condition.

PGD Process

Genetic Diagnosis
healthy embryo
healthy baby

How is PGD performed?

Step 1

Unlike PGS, PGD is very much unique for each family. Given that, the to-be-parents know the genetic disorders run through their family and are ready to undergo several tests, as prescribed by your specialist.

Step 2

A preliminary screening is performed on the parent’s blood to diagnose the genes responsible for the disease and their inheritance pattern.

Step 3

The embryos are created using the traditional IVF method followed by your fertility specialist.

Step 4

The embryologist will remove few cells from the embryos to proceed with the testing.

Step 5

The unaffected embryos are identified and they will be populated in the uterus. This helps in giving birth to a disease-free baby.

For Whom?

Appropriate for people who are at high-risk of passing on single gene disorders such as Cystic Fibrosis, Muscular Dystrophies, autosomal dominant conditions, hereditary cancer syndrome, etc. Even if one among the parents is possessing any one of the above issues, PGD becomes compulsory.


  • Helps in detecting known genetic diseases and chromosomal abnormalities.
  • Prevents unhealthy embryos from being transferred into the uterus.
  • Reduces pregnancy risks and increases the chances of making IVF cycle a successful one.
  • Even the parents with inherited genetic disorders can produce healthy babies, free from any such issues.

Preimplantaion Genetic Diagnosis (PGD) for Single Gene Disorders

  • Choleastasis, progressive familial intrahepatic
  • ACADM deficiency
  • Bardet-Biedl syndrome
  • Cystic fibrosis
  • Charcot-Marie-Tooth disease, typr 1 B
  • Stickler syndrome, type II
  • Osteogénesis imperfecta
  • Spondyloepiphyseal dysplasia
  • Adrenal hyperplasia, congenital
  • Muscular dystrophy-dystroglycanopathy
  • Multiple endocrine neoplasia II
  • Retinitis pigmentosa
  • Central core disease
  • Duchenne muscular dystrophy
  • Steinhert (DM1)
  • Jeune syndrome
  • Cerebral Vascular Disease
  • Exostoses, type I
  • Exostoses, type II
  • Hemophilia A
  • Hydrocephalus
  • Marfan syndrome
  • Fragile X syndrome
  • Spinal muscular atrophy
  • Spastic paraplegia AD type 3
  • Holt-Oram syndrome
  • Hemophagocytic lymphohistiocytosis, familial, 3
  • Mucopolysaccharidosis
  • Oculodentodigital dysplasia
  • Thalassemia-beta
  • Tay-Sachs disease
  • Histocompatibility
  • Lynch syndrome
  • Huntington disease
  • Combined immunodeficiency, X-linked
  • Amyotrophic lateral sclerosis (ALS)
  • Epidermolysis bullosa
  • Treacher Collins syndrome 1
  • Tuberous sclerosis-1
  • Saethre-Chotzen syndrome
  • Cardiomyopathy dilated
  • Renal cysts and diabetes syndrome
  • Multiple endocrine neoplasia
  • Ornithine transcarbamylase deficiency
  • Autosomal dominant Polycystic kidney disease 1
  • Autosomal dominant Polycystic kidney disease 2
  • Autosomal recessive Polycystic kidney and Hepatic disease
  • Charcot-Marie-Tooth disease, type 1A and type 1E
  • FSHD

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