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Preimplantation Genetic Diagnosis (PGD)

 

What are the pathologies that can be diagnosed by PGD DNA analysis?

 

How is PGD carried out?

- Ovulation Induction
- Oocyte Aspiration
- Fertilization and Embryo Culture
- Polar body removal and/or blastomere biopsy
- Preimplantation Genetic - Diagnosis in blastomeres
- Embryo transfer and implantation

 

Single gene disorders studied and results obtained

 

Preimplantation HLA matching
What are the pathologies that can be diagnosed by PGD DNA analysis?

Almost all genetically inherited conditions that are diagnosed in the prenatal period can also be detected in the preimplantation period. Diseases which have a high risk of transmission (25-50%) and are usually associated with significant morbidity and mortality can be screened for by this technique.

It is possible to perform PGD for any genetic disorders, autosomal dominant, recessive or X-linked, with an identifiable mutation. For pathologies caused by expansions of nucleotidic triplettes (such as Fragile X, Huntington's disease, Myotonic Dystrophy, etc.) it is possible to obtain only information on the absence of triplette expansion. Whether or not to undergo examination must therefore be evaluated case-by-case.  Below is a table listing of the most frequent genetic diseases that can be diagnosed by PGD.

Research and Development Section of “Genoma” Laboratory is able to set-up and perform PGD for any genetic disorders with an identifiable mutation.

 

Table 1. Genetic diseases transmittable to offspring that can be analyzed by genetic diagnosis after biopsy of the ovocytes and embryos:

- Achondroplasia
- Adrenoleukodystrophy
- Agammaglobulinemia
- Alpha-1-Antitrypsin
- Alpha Thalassemia
- Alport Disease
- Alzheimer's disease - Early onset (PSEN1-2)
- Becker muscular dystrophy
- Beta Thalassemia
- Charcot Marie Tooth
- Chromosomal aneuploidies by FISH
- Cystic Fibrosis
- Cruzon syndrome
- Duchenne muscular dystrophy
- Dystonia
- Epidermolysis Bullosa
- Fanconi Anemia
- Familial adenomatous polyposis (FAP)
- Familial dysautonomia
- Fragile-X syndrome
- Gaucher’s Disease
- Glycogen storage disease
- Hemophilia A and B
- HLA typing
- HSNF5 mutations
- Huntington disease
- Hurler syndrome
- Incontinentia pigmentii
- Kell disease
- Lesch Nyhan Syndrome
- Long Chain Acyl-Co A Dehydrogenase (LCHAD) deficiency
- Marfan syndrome
- MELAS
- Multiple Endocrine Neoplasia Type II (MEN II)
- Multiple Epiphysial Dysplasia
- Myotonic Dystrophy
- Myotubular myopathy
- Neurofibromatosis type I
- Neurofibromatosis type II
- Norrie disease
- Osteogenesis imperfecta I - IV
- OTC Deficiency
- P53 Oncogene
- Phenylketonuria
- Polycystic kidney disease (Autosomal Dominant types I and II)
- Retinitis Pigmentosa
- SCA 6
- Sickle Cell Anemia
- Sonic hedgehog mutations
- Spinal/Bulbar Muscular Atrophy
- Spinal Muscular Atrophy
- Tay-Sachs Disease
- Translocations by FISH
- Tuberous sclerosis
- Von Hippel Lindau
- Wiskott-Aldrich syndrome
- X linked Disease by sexing
- X-linked hydrocephalus
- X-linked hyper IgM syndrome
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