PGD ONE™ is a test that detects the genetic defects (mutations) inherited by a child from their parents. DNA material from embryos is analysed prior to transfer to the uterus, that is, before the woman actually becomes pregnant.
The test can be carried out on material collected by biopsy in the 3rd (blastomere) or 5th/6th (trophectoderm cells) day of the embryo culture. Because of the risk of misdiagnosis caused by the pollution of sperm when using standard in vitro fertilization, the ICSI procedure is recommended. Any diagnosis of PGD ONE™ is treated individually and preceded by an examination of the material from the prospective parents. Under the procedure, a frozen embryos transfer (FET) is required.
|Cystic fibrosis (CF), Mucoviscidosis||CFTR|
|Smith-Lemi-Opitz syndrome (SLOS)||DHCR7|
|Muscular dystrophy (DMD)||DMD|
|Deafness, autosomal recessive 1A (DFNB1A)||GJB2|
|Huntington disease (HD)||HD|
|Autosomal Dominant Polycystic Kidney Disease (ADPKD1)||PKD|
|Spinal muscular atrophy||SMN1|
|Familial adenomatous polyposis 1 (FAP1)||APC|
|Osteogenesis imperfecta, type IV (OI Type IV)||COL1A1|
|Facioscapulohumeral muscular dystrophy 1 (FSHD1)||FSHD|
|Epidermolysis bullosa simplex (EBS)||KRT14|
|Congenital disorder of glycosylation, type 1a (CDG1A)||PMM2|
|Pituitary hormone deficiency, combined, 2 (CPHD2)||PROP1|
|Tuberous sclerosis 1 (TSC1)||TSC1|
PGD ONE™ is individually designed preimplantation genetic diagnosis for particular patients in order to exclude transmission to descendant a genetic feature proven to be a cause of disease by test results from genetic diagnostics laboratory. Performing PGD ONE™ does not exclude risk of genetic disease, which may be resulted from other factors, e.g. de novo mutations, undiagnosed mutations, or other genetic diseases.