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Preimplantation Genetic Testing – PGT
A state-of-the-art diagnostic procedure used with in vitro fertilization techniques, to screen embryos for monogenic and chromosomal disorders.
Preimplantation genetic testing (PGT) has been introduced as a technique complementary to prenatal diagnosis in order to increase the options available for at risk couples. Its intended goal is to significantly reduce a couple’s risk of transmitting a genetic disorder or a chromosomal abnormality by diagnosing such conditions in oocytes or early human embryos that have been cultured in vitro, before a clinical pregnancy has been established. After testing, only embryos diagnosed as unaffected are selected for transfer to the woman’s uterus. The great advantage of PGT over prenatal diagnosis is that a potential termination of pregnancy is avoided. This gives couples the opportunity to start a pregnancy with the knowledge that their child will be unaffected. Consequently, PGT does not require a decision regarding possible pregnancy termination.
An advanced preimplantation genetic test that, using Next generation Sequencing (NGS) technique, screens multiple genes to detect mutations causing severe inherited and de novo genetic disorders in embryos. EMBRYOTEST is a complement to Genomica's market-leading PGTADVANCE test, which screens embryos for aneuploidies and segmental chromosome imbalances, as well as for gene mutations causing Mendelian genetic diseases.
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A line of latest generation pre-implantation genetic tests (PGT) that allows detection of genetic diseases or numerical (aneuploidy) or structural (chromosomal imbalances) chromosomal alterations in preimplantation embryos, generated in vitro by couples at high reproductive risk. A cutting-edge test that offers a full panel of screening options:
• Preimplantation genetic testing for chromosomal aneuploidy (PGT-A): A genetic test designed to identify chromosomal aneuploidy in embryos using Next-Generation Sequencing (NGS);
• Preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR): A genetic test designed to detect structural chromosomal imbalances in the embryonic DNA (eg. unbalanced translocations, deletions, duplications, etc.) using the Next-Generation Sequencing (NGS) technique;
• Preimplantation genetic testing for monogenic disorders (PGT-M): A genetic test designed to identify in embryos gene mutations causing genetic disorders (eg Cystic fibrosis, Beta Thalassemia, etc).
The PGTADVANCE Plus tests are integrated with the Next Generation Sequencing (NGS) analysis of numerous variants in the embryonic DNA sequence, known as single nucleotide polymorphisms (SNPs). This test, through the use of a sophisticated bioinformatic analysis allows:
• the identification of triploidy (which affect ~2-3% of pregnancies and is responsible for ~15-18% of miscarriages) and haploidy, chromosomal anomalies not detectable with standard PGT-A techniques;
• to carry out a quality control of the results aimed at:
o detection of potential contaminations deriving from cumulus cell DNA;
o prevention of sample mix-ups through identification of genetically related embryos.
A pioneering non-invasive pre-implantation genetic test developed by GENOMICA that allows identification of embryos with a higher probability of euploidy, and therefore with a higher implantation potential, by analyzing the cell-free embryonic DNA in spent culture media. The test assigns the embryos a degree of priority for transfer to the uterus, based on information on the chromosome copy number of the embryos. This information may be used for selecting optimal embryo to prioritize and transfer first in an IVF cycle, thus maximizing the chances of success of the IVF treatments
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