Genetics – PGD / PGS

Preimplantation examination

In assisted reproduction, it is possible to perform genetic testing and selection of embryos created in the process before implantation.

Preimplantation testing should focus either on genetic diseases that are already present in the family or on random genetic changes caused by external environment – which one of the most important is the age of parents.

We distinguish two types of preimplantation examination:

PGD (preimplantation genetic diagnosis) – examination of embryos to exclude hereditary disease in the family.

PGS (preimplantation genetic screening) – examination of embryos to exclude new emerging chromosomal defects which could occur in couples without genetic disorders.

PGD (Pre-implantation diagnostics)

Pre-implantation genetic diagnostics (PGD) is a method which enables genetic screening of the developing embryo before it is inserted into a woman’s uterus. PGD is used to eliminate embryos with genetic disorders, which could be on the level of chromosomal anomalies (translocation, aneuploidy, other structural chromosome reconfiguration) or this may concern a single gene disorder, e.g., a monogenic disorder.

PGS (Pre-implantation genetic screening)

Pre-implantation genetic screening (PGS) is used to eliminate newly originating chromosomal abnormalities. The aim of this method is to choose a genetically healthy embryo for the transfer and thus increase the chance of successful implantation. This method can help us determine the cause of IVF failures.

Uses of PGD/PGS

  • PGD/PGS is recommended for infertile couples where the female is aged over 35 (which results in a higher risk of giving birth to a child with an abnormal number of chromosomes – Down’s syndrome, for instance)
  • For women who have suffered a miscarriage or birth of a foetus with a chromosomal disorder
  • For women who have suffered repeated failures during IVF cycles
  • If repeated semen analysis results fall towards the lower standard limit
  • Sperm was obtained using the MESA or TESE methods
  • If there is a genetic burden in the family
Back to Top