Embryonic DPI during in vitro fertilization (IVF)

Why do I need preimplantation genetic diagnosis (PGD) during IVF?

Couples undergoing assisted reproductive techniques (ART) often question the necessity of preimplantation genetic diagnosis (PGD) for embryos during IVF. Is this test mandatory for everyone, or are there specific indications?

PGD can be an important step in in vitro fertilization, but not all couples need it. Embryonic genetic testing is recommended in the following cases:

• If the woman is aged 35 or older and the man is 40 or older;
• If the woman has a history of spontaneous miscarriages;
• If multiple IVF attempts have failed;
• If one or both partners are carriers of genetic diseases or chromosomal abnormalities.

What is preimplantation genetic diagnosis of embryos in the context of IVF?

Preimplantation genetic diagnosis is the genetic analysis of cells taken from a biopsy of the blastomere or trophectoderm of the embryo. Depending on the stage of development of the embryo, cells are taken on the third or fifth day of embryo development.

The biopsy method is considered safe as studies show that taking a small number of cells does not affect the subsequent development of the embryo and does not reduce the likelihood of successful implantation. The process is performed using modern technology to minimize potential risks. The collected material is sent to a genetic laboratory for thorough examination, allowing only embryos without genetic abnormalities to be selected for transfer.

Depending on the diagnostic goals, PGD can be performed using different methods such as:

• NGS (Next Generation Sequencing) is a next-generation sequencing: This analysis aims to detect chromosomal abnormalities and monogenic disorders in embryos;
• a-CGH (Comparative Genomic Hybridization on a Chip) This method is based on whole gene scanning with the Oligonucleotide \ BAC matrix. With this method, potential chromosomal anomalies can be detected due to duplications (gain), deletions (loss), and translocations (replacement) of carriers on the chromosomes.
• FISH (Fluorescence In Situ Hybridization) is a laboratory method used to detect and locate specific DNA sequences on chromosomes. It is particularly useful in genetic research and in diagnosing aneuploidies or genetic issues.

Types of preimplantation genetic tests

There are several types of preimplantation genetic tests, depending on the diagnostic goals:

• PGT-A - detection of aneuploidy (abnormal number of chromosomes);
• PGT-M - diagnosis of monogenic diseases;
• PGT-SR - detection of structural rearrangements of chromosomes.

Advantages of embryonic PGD during IVF treatment

Performing genetic tests on embryos during IVF has several important advantages:

• It prevents the transfer of embryos with chromosomal abnormalities, reducing the risk of early miscarriage;
• It allows for the selection of only healthy embryos for transfer, reducing the likelihood of having a child with genetic diseases such as Down syndrome, cystic fibrosis, hemophilia, spinal muscular atrophy, and other hereditary conditions;
• It increases the probability of a successful pregnancy;
• It reduces the financial costs of repeated IVF cycles by decreasing the number of unsuccessful attempts and increasing the efficiency of embryo transfers;
• It reduces the emotional stress associated with the wait for a pregnancy and potential genetic risks.

If you would like to learn more about preimplantation genetic diagnosis of embryos in the context of in vitro fertilization, schedule a consultation at the Natuvitro clinic. Experienced reproductive specialists will help you choose the optimal in vitro fertilization (IVF) program and, if necessary, will recommend PGD to increase the chances of a successful pregnancy.