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.
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.
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
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.