The following is an incomplete list of conditions that can be tested for with PGD:
Structural chromosomal defects
- Aneuploidy screen for advanced maternal age, recurrent pregnancy loss, and recurrent IVF failures.
- Sex linked recessive disorders
- Chromosomal translocations
- Kleinfelter syndrome
- Sex chromosome masaicism
Monogenic (single gene) diseases
- Cystic Fibrosis
- Beta Thallasemias
- Spinal muscular dystrophy
- Tay-Sachs
- Rh isoimunization
- Gaucher disease
- Sandhoff disease
- Sickle cell anemia
- Adrenoleukodystrophy
- Dystonia
- Factor V Leiden
- Familial hypophosphatemia
- Fanconi anemia
- Freidrech ataxia
- Medium chain AcylCoA deficiency
- Methymalonic acidemia
- Ornithine transcarbamylase deficiency
- Pyruvate dehydrogenase deficiency
- Polycystic kidney disease
Autosomal dominant diseases
- Myotonic dystrophy
- Huntington's disease
- Charcot-Marie-Tooth disease
- Neurofibromatosis type 1
- Marfan's syndrome
- Osteogenesis imperfecta
X-linked Diseases
- Duchene and Becker's muscular dystrophy
- Hemophilia
- Fragile X syndrome
- Wiskott-Aldrich syndrome
- Charcott-Marie Tooth disease
- Coffin-Lowry syndrome
- Granulomatous disease
- Hydrocephalus
- Agammaglobuminemia
- Ataxia
- X linked Autism
- Barth Syndrome
- Golz syndrome
- Hunter syndrome
- Hypohydrotic ectodermal dysplasia
- Lucontinental pigmenti
- Kennedy disease
- Lowe syndrome
- Pelizaeus-Merzbacher syndrome
- Proliferative disease
- Retinitis pigmentosa
- Retinischisis
- Vitamin D resistant rickets
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