PGT for monogenetic disorders (PGT-M)

Previously known as PGD, PGT-M is a technique used to analyze genes in families with a known single gene disorder in which the gene and/or mutation has been confirmed. At Superior A.R.T. we use Polymerase Chain Reaction (PCR), in combination with Next Generation Sequencing (NGS), to select embryos not affected by the family genetic disease. We can do any diagnosed and confirmed single gene disorder, and they include such genetic disorders as thalassemia, hemophilia, polycystic kidney disease, Huntington’s disease, albinism, color blindness, neurofibromatosis, spinal muscular atrophy, and thousands more.

Who should use PGT-M?

Couples where one or both are carriers of a known and confirmed single gene disorder, or who have a child with a genetic disorder

Couples with a child already affected by a disorder (genetic or non-genetic) which is potentially treatable by stem cell therapy. We can do HLA matching (see below).

Couples where one or both are carriers of a balanced chromosomal translocation and want to detect whether balanced embryos are carriers or non-carriers of the translocation

PGT-M – PCR (Polymerase Chain Reaction) with NGS (Next Generation Sequencing)?

At Superior A.R.T we always use the PCR technique for the single gene disorder (and/or HLA Matching – see below) in combination with NGS for comprehensive chromosome screening. The ‘combination’ testing is done on a single biopsy of cells from an embryo, and allows couples to know whether the embryos have genetic and/or chromosomal disorders. After the first step of NGS, parts of the WGA can be used for NGS, and parts for the PCR.

NGS+PCR: a combination of two powerful and accurate techniques to increase pregnancy rates and minimise genetic diseases.

The benefit of using the combined NGS and PCR technique is that not only is the single gene disorder detected and selected against, but an embryo without any detectable chromosomal disorder is also selected, resulting in higher pregnancy rates and lower miscarriage rates when compared to the use of the PCR technique only

PGT-A and PGT-M Success Rate at Superior A.R.T.

HLA Matching?

A couple who have an existing child with a disorder, genetic or non-genetic, that is potentially treatable by stem cell therapy, can have another child (free of the disorder if it is genetic disorder such as thalassemia) who is an exact HLA match (tissue compatible) to the existing child. At birth of the new child cord blood can be collected, stem cells harvested, and these used to treat the existing affected child. This treatment is very successful since the HLA match is a 100% genetic match. We were the first clinic in Asia to use this technique to successfully cure an existing child.

List of more than 200 genetic disorders which Superior A.R.T. can screen for.

  • ABO blood type incompatibility
  • Alagille disease
  • Alpers disease
  • Alpha-Thalassemia
  • Alport syndrome
  • Anti-Kell antibodies
  • Becker muscular dystrophy
  • Beta-Thalassemia
  • Blepharophimosis ptosis epicanthus inversus
  • 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
  • Congenital adrenal hyperplasia
  • Congenital disorder of glycosylation
  • Congenital nephrotic disease
  • Connexin 26
  • Crigler-Najjar syndrome I
  • Crouzon syndrome
  • Cystic fibrosis
  • Czech dysplasia
  • Dejerine-Sottas syndrome
  • Duchenne muscular dystrophy
  • Early onset Alzheimer disease
  • Early onset torsion dystonia
  • E-cadherin
  • Ectodermal dysplasia
  • Emery Dreifuss muscular dystrophy
  • Epidermolysis bullosa, dominant dystrophic
  • Epidermolysis bullosa, Herlitz junctional, gene 1
  • Epidermolysis bullosa, Herlitz junctional, gene 2
  • Epidermolytic palmoplantar keratosis
  • Facioscapulohumeral muscular dystrophy
  • Familial adenomatous polyposis
  • Familial amyotrophic lateral sclerosis (Lou Gehrig’s disease)
  • Fechtner syndrome
  • Fragile X
  • Fumarase deficiency
  • Galactosemia
  • Gaucher disease type 2
  • Glucose-6-phosphate dehydrogenase (G6PD)
  • Glycogen storage disease 1b
  • Goldberg- Shprintzen syndrome
  • Gorlin syndrome
  • Hemophilia A
  • Hemophilia B
  • Hereditary non polyposis colon cancer 2
  • Hereditary spherocytosis
  • Hirschsprung’s disease
  • 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
  • Hypophosphatemic rickets
  • Incontinentia pigmenti
  • Infantile neuroaxonal dystrophy
  • Juvenile neuronal ceroid lipofuscinosis
  • Juvenile retinoschisis
  • Late infantile neuronal ceroid lipofuscinosis (Batten disease)
  • Lowe oculocerebrorenal syndrome
  • Marfan syndrome
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Medullary thyroid carcinoma (RET)
  • Metachromatic leukodystrophy
  • Multiple endocrine neoplasia 2A
  • Multiple hereditary exostoses
  • Myotonic muscular dystrophy
  • Myotubular myopathy
  • Nail-patella syndrome
  • Nemaline myopathy
  • Nephrogenic diabetes insipidus
  • Neurofibromatosis type 1
  • Neurofibromatosis type 2
  • Norrie disease
  • Oculocutaneous Albinism
  • Ornithine transcarbamylase deficiency
  • Osteogenesis Imferfecta 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 anemia
  • Simpson Golabi Behmel syndrome
  • Spastic paraplegia
  • Spinal muscular atrophy 1
  • Spinal muscular atrophy 2
  • Spinal muscular atrophy 3
  • Stickler syndrome
  • Thyroid cancer
  • Translocations – various
  • Transthyretin amyloidosis
  • Treacher-Collins syndrome
  • Tuberous sclerosis, gene 1
  • Tuberous sclerosis, gene 2
  • Ulrich 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