Screening for inherited disease
Preimplantation genetic diagnosis (PGD) was developed specifically for the identification of embryos with genetic abnormalities.
These abnormalities can cause autosomal recessive diseases such as beta-thalassemia and alpha-thalassemia, autosomal dominant diseases such as many of the muscular dystrophies, and X-linked diseases such as fragile X and haemophilia.
The gender of the embryo is always tested during PGD for an X-linked disease. It is relevant medically because the potential mother carries an abnormal gene on her X chromosome. In these cases a genetic disease can, on average, affect half of her sons because their only X chromosome is defective.
Couples who carry mutations for an inheritable genetic disease previously only had two options: they could either take their chances and hope that their baby would be unaffected; or they could have a prenatal test and, if foetus affected, consider terminating the pregnancy. For these couples, it might mean repeated terminations, with the associated heartache.
We have available the expertise and technology from Sydney IVF, world-renowned for its innovative work in PGD testing for inherited single gene diseases.
Sydney IVF has successfully developed tests for more than 109 conditions including the following:
- Alagille syndrome
- Alpers disease
- alpha 1 anti-trypsin
- alpha-thalassemia
- Alport syndrome
- anti-Kell antibodies
- Becker muscular dystrophy
- beta-thalassemia
- breast cancer, gene 1
- breast cancer, gene 2
- carbamoyl phosphate synthetase deficiency
- central core disease
- cerebral arteriopathy (Cadasil)
- Charcot-Marie-Tooth syndrome 1A
- Charcot-Marie-Tooth syndrome 1B
- chronic granulomatosis disease (CGD)
- congenital adrenal hyperplasia
- congenital disorder of glycosylation
- congenital nephrotic syndrome
- connexin 26
- Crigler-Najjar syndrome I
- Crouzon syndrome
- cystic fibrosis
- Czech dysplasia
- Dejerine-Sottas syndrome
- Duchenne muscular dystrophy
- E-cadherin
- early onset Alzheimer disease
- early onset torsion dystonia
- ectodermal dysplasia
- Emery Dreifuss muscular dystrophy
- epidermolysis bullosa, Herlitz junctional, gene 1
- epidermolysis bullosa, Herlitz junctional, gene 2
- epidermolytic palmoplantar keratosis
- facioscapulohumeral muscular dystrophy
- familial adenomatous polyposis
- familial amytrophic lateral sclerosis (Lou Gehrig's disease)
- Fechtner syndrome
- fragile X
- fumarase deficiency
- galactosemia
- Gaucher disease type 2
- Goldberg-Shprintzen syndrome
- Gorlin syndrome
- haemophilia A
- haemophilia B
- HLA match for Wiskott-Aldrich syndrome
- HLA match with beta thalassemia
- HLA match with diamond blackfan anemia
- HLA match with hyper IgM
- HLA match with sickle cell anemia
- HLA matching
- Holt Oram Syndrome
- Hunter syndrome (mucopolysaccharidosis II A)
- Huntington disease
- Hyper IgM
- hypochondroplasia
- hypophosphatasia
- incontinentia pigmenti
- juvenile neuronal ceroid lipofuscinosis
- late infantile neuronal ceroid lipofuscinosis(Batten disease)
- Lowe oculocerebrorenal syndrome
- medium-chain acyl-CoA dehydrogenase deficiency
- medullary thyroid carcinoma (RET)
- metachromatic leukodystrophy
- mucopolysaccharidosis III B
- multiple endocrine neoplasia 2A
- multiple hereditary exotoses
- myotonic muscular dystrophy
- myotubular myopathy
- nail-patella syndrome
- nemaline myopathy
- nephrogenic diabetes insipidus
- neurofibromatosis types 1
- neurofibromatosis types 2
- Norrie disease
- oculocutaneous albinism
- ornitrine transcarbamylase deficiency
- osteogenesis imperfecta type 1
- palmoplantar hyperkeratosis
- Pendred syndrome
- pericentric inversion of X
- polycystic kidney disease, autosomal dominant, gene 1
- polycystic kidney disease, autosomal dominant, gene 2
- polycystic kidney disease, autosomal recessive
- proximal myotonic myopathy
- psoriasis, susceptibility gene
- pulmonary alveolar proteinosis
- retinoblastoma
- rhesus D disease
- Saethre-Chotzen syndrome
- Sandhoff disease
- sickle-cell anaemia
- spinal muscular atrophy 1
- spinal muscular atrophy 2
- Stickler syndrome
- thyroid cancer
- transthyretin amyloidosis
- Treacher-Collins syndrome
- tuberous sclerosis
- Ullrich congenital muscular dystrophy
- vitelliform macular dystrophy
- von Hippel-Lindau disease
- Wilms tumour
- Wiskott-Aldrich syndrome
- Wolman disease
- X-linked adrenoleukodystrophy
- X-linked choroideremia
- Zellweger syndrome
We can usually test for any inheritable single gene disease as long as the gene and/or mutation are known.
We can also do PGD for HLA matching, to produce an unaffected sibling who is an exact HLA match to an existing affected child. Stem cells harvested from the cord at birth may be used as a potential treatment for the affected child. www.stemcells21.com
