Preimplantation Genetic Screening In Europe - PFC

Preimplantation genetic screening and diagnostics 

To prevent genetic anomalies in embryos, we use advanced genetic analysis technologies to help avoid nesting failure and avert the transmission of genetic disorders.

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What are PGT‑M, PGT-SR and PGT‑A?

Current advanced genetic analysis technologies allow the exclusion of genetic anomalies in embryos cultured in vitro. In assisted reproduction, we are able to examine embryos and prevent repeated failures at nesting through preimplantation genetic screening, or PGT‑A testing. We can also prevent the transmission of a specific hereditary genetic defect in the couple’s families through preimplantation genetic diagnosis, PGT‑M and/​or PGT-SR tests.

Preimplantation genetic analysis of embryos
has become an important tool in promoting successful assisted reproduction. At the same time, it is a complex and sensitive issue that we address with each couple individually according to their specific test results and circumstances.

Thanks to precise, highly sensitive technologies (next-generation sequencing — NGS), we can analyse all 23 pairs of chromosomes humans possess. There are three basic types or sources of genetic abnormalities in the early stages of embryonic development

  • Hereditary diseases caused by defective genes (PGT‑M test)
  • An incorrect number of chromosomes arising during egg or sperm division or during incorrect embryo division (PGT‑A test)
  • Structural disorders, typically chromosome rearrangements where pieces of chromosomes are missing, duplicated, or moved around (PGT-SR test).

Expanded blastocyst biopsy

When do we use the methods?

PGT‑A and PGT-SR genetic screening are prescribed for couples with repeated implantation failure, frequent miscarriages, high male factor infertility rates or unexplained infertility. Thanks to modern gene sequencing methods, we are able to detect conditions such as Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), Turner syndrome (monosomy X), and Klinefelter syndrome (gonosomal trisomy XXY and others), in up to 99% of cases. Preimplantation screening of the embryo can increase the chances of pregnancy in indicated complicated cases to about 60% or more.

PGT‑M or genetic diagnostic testing
is necessary for couples, one or both of whose family has been diagnosed with a specific genetic disease, such as Cystic fibrosis, Marfan syndrome or Spinal muscular atrophy. The effect of PGT‑M on nesting success and pregnancy formation varies according to specific findings and testing.

What is the procedure like?

In both cases, embryo biopsy is necessary for the examination to take place. It is an invasive procedure where about 6 – 10 cells are removed and analysed. After the biopsy, the embryo must be frozen until the results are obtained as genetic testing does not allow the transfer of a fresh embryo. We will know the results within 4 – 5 weeks of the procedure. The biopsy is always performed by a senior, experienced embryologist.

The risk of some genetic defects, such as chromosome errors, can also be significantly reduced non-invasively using advanced laboratory technologies, such as continuous time-lapse monitoring. This method allows us to detect abnormal embryo division that leads to an abnormal chromosome distribution (or aneuploidy).

Main Benefits of Testing: 

  • Increased chance of pregnancy
  • Reduced risk of miscarriage
  • Reduced risk of having a baby with a genetic condition.

Preimplantation screening and embryo diagnosis are part of our complex and personalised approach for each couple. If, based on examination and medical history, we suggest these more financially demanding treatment options we will always explain all procedures in partnership with you and in a completely open and transparent way.

Your IVF Coordinators can let you know the prices of PGT‑A, PGT-SR and PGT‑M tests.