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Genetic Diagnostics

PGT-A

PGT-A, or preimplantation genetic testing for aneuploidies, is a genetic test performed on embryos produced through IVF. PGT-A gives information about embryos’ genetic health to help us to select the best embryo for transfer and improve the chance of achieving a successful pregnancy.

PGT-A works by looking at the amount of genetic material within IVF embryos. This genetic material is housed within structures called chromosomes. Chromosomes are very important for healthy growth and development.

Embryos with the incorrect number of chromosomes (also called aneuploid embryos) typically do not result in a successful pregnancy or may lead to the birth of a child with a genetic condition.

Embryos with the correct number of chromosomes (also called euploid embryos) have a better chance of leading to a successful pregnancy.

PGT-A identifies embryos with the correct number of chromosomes, so your care team can select the embryo with the best chance of leading to IVF success.

Benefits of the PGT-A

PGT-SR

PGT-SR is a preimplantation genetic testing for chromosomal structural rearrangements, can be performed to improve the chance of establishing a healthy pregnancy. PGT-SR involves testing embryos created through in vitro fertilization (IVF) and then transferring only normal embryos.

FISH (fluorescent in-situ hybridization) is an entirely new technology allowing to find out the number of chromosomes 13, 16, 18, 21, 22, X, Y in an embryo. Fluorescence in situ hybridization uses fluorescent probes which bind to specific sites of the chromosome with a high degree of sequence complementarity to the examinations. The fluorescent probes are nucleic acid labeled with fluorescent groups and can bind to specific DNA/RNA sequences.

Next-generation DNA sequencing (NGS) method is based on decryption of DNA molecule fragments. The sequence of its constituent bases provides storage, transmission from generation to generation and the implementation of a genetic program for the development and functioning of the body.

Earlier, it was found that the human genome contains 20-25 thousands of active genes, that is, only 1.5% of all genetic material. Genes are unevenly distributed to chromosomes. Each chromosome contains various gene-rich and gene-poor regions. Therefore, with the help of sequencing a new generation (NGS), it is possible to carry out an analysis of both the gene and chromosome.

Exactly this feature of the NGS allows our specialists to discover the full chromosomal complement of the embryos before they will transfer to the uterus. It helps us to find out not only the most common diseases but also rare chromosomal disorders.

Another important area, where we can use NGS  - invasive prenatal diagnostic. Defects of the fetus development are often connected with the chromosomal anomaly. With the help of a modern NGS method, that we provide in the IGR medical center, it became possible to make a research of the fetus cells.

PGS

Older women are more likely to have eggs with abnormal chromosomes, so this screening is typically offered to women over 38 years of age. Similarly women who have faced repeated miscarriages or implantation failure may use this test to aid the transfer of a chromosomally normal embryo giving a higher chance of a healthy live birth.

Benefits of PGS

During PGS, only the embryos which have developed to Blastocyst stage in the laboratory (at 5-6 days of development) are screened; whereby a small number of cells is removed from the embryo during a biopsy by one of our skilled embryologists.  Your biopsied embryos will then be frozen in our onsite laboratory using vitrification whilst we await the results from the specialist genetics laboratory.

Only embryos without any chromosomal abnormalities will be placed back in the womb via a procedure called Frozen Embryo Transfer.