PGD / PGS
Preimplantation genetic testing (PGT, earlier known as preimplantation genetic diagnosis (PGD) and preimplantaion genetic screening (PGS)) is a wide term used for embryo genetic analysis prior to intrauterine transfer, and, therefore, prior to the pregnancy.
There are different types of PGT:
With PGT-A, we can detect:
- Abnormal chromosome number, including syndromic genotypes, such as Down syndrome, Edwards syndrome etc.
- Partial (segmental) aneuploidy
- Unbalanced translocations
- Certain types of polyploidy
According to PGT-A results, we do not perform transfers of non-recommended embryos, preventing unsuccessful procedures, miscarriage and unhealthy pregnancies.
For now, next generation sequencing method (NGS) is a gold standard for PGT-A, and with our clinic, you can have the PGT-A result even in 7 days!
Monogenic disorders include more than 200 of syndromes with variable health impact, and the common examples are the following:
- Myotonic dystrophy
- Huntington disease
- Marfan syndrome
- Neurofibromatosis types I and II
- Fanconi anemia
- Spinal muscular atrophy
- Cystic fibrosis
- Beta thalassemia
- Retinitis pigmentosa
- Fragile X syndrome
- Duchenne and Becker muscular dystrophy
- Type A and B hemophilia
PGT-M is performed individually for every couple, according to their mutations, and requires several preliminary steps with genetic consulting.
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