Preimplantation Genetic Diagnosis (PGD)

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Overview

Preimplantation Genetic Diagnosis (PGD) is an advanced technology being implemented in In Vitro Fertilisation (IVF) used for the diagnosis of a single gene disorder at early embryo stage prior to implantation. For patients with family history of genetic diseases, it helps to preselect normal embryos to make sure that no single gene disorder is passed on.  This whole process will take about 3 to 6 months to complete.

This technology is suitable for patients with family history or single gene disorder or patients who have conceived child diagnosed with single gene disease.

Not all the genetic disorders inherited are related to single gene. Some could also be associated with the environment, such as hypertension and diabetes which are inheritable.  Preimplantation genetic diagnosis is not applicable to these cases.

Procedure

  1. Perform the genetic testing for single gene disorder based on your family history in order to look for points of mutation.
  2. Analyse and design a personalised probe accordingly.
  3. Fertilised egg will be culture in the laboratory for at least 5 days.
  4. Embryo biopsy will then be performed in order to obtain the Trophectoderm cell at Blastocyst stage
  5. Specimen collect will undergo Whole Genome Amplification (WGA)
  6. Dual platform testing: Direct and indirect testing for D5 biopsied cells.

 

Who would find PGD helpful?

List of single gene disorders which could be implemented with Preimplantation Genetic diagnosis (PGD) in IVF treatment :

  • Achondroplasia (AC)
  • Ankylosing spondylitis (AS)
  • Aromatic L-amino acid aecarboxylase (AADC)
  • Autosomal dominant polycystic kidney disease
  • Autosomal recessive polycystic kidney disease
  • Bardet-Biedl Syndrom (BBS)
  • Bruton syndrome
  • Bullous Congenital ichthyosiform erythroderma
  • Charcot-Marie-Tooth disease (CMT)
  • Citrullinemia Type II
  • Colour blindness
  • Congenital adrenal hyperplasia (CAH)
  • Congenital deafness (CD)
  • Congenital generalised lipodystrophy
  • Duchenne/Becker muscular dystrophy (DMD/BMD)
  • Epidermolysis bullosa simplex (EBS)
  • Facioscapulohumeral muscular dystrophy
  • Fragile X syndrome
  • Glycogen Storage Disease Type Ia
  • Glycogen Storage Disease Type II
  • Hemophilia A (HA)
  • Hemophilia B (HB)
  • Human leukocyte antigen (HLA)
  • Huntington’s disease
  • Hypokalemic periodic paralysis
  • Krabbe Disease
  • Marfan syndrome
  • Meckel Gruber Syndrome
  • Metachromatic Leukodystrophy
  • Neurofibromatosis type I (NF1)
  • Ornithine transcarbamylase deficiency (OTCD)
  • Osteogenesis imperfecta (OI)
  • Retinoblastoma (RB)
  • Severe combined immunodeficiency (SCID)
  • Spinal muscular atrophy (SMA)
  • Spinocerebellar ataxia type II (SCA2)
  • Spinocerebellar ataxia type III (SCA3)
  • Spinocerebellar ataxia type VI (SCA6)
  • Spondyloepiphyseal Dysplasia Tarda
  • Tuberous sclerosis complex (TSC)
  • Wilson’s disease
  • α-thalassemia
  • β-thalassemia