Genetic Counseling

Personalized pre- and post-test counseling support

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Non-invasive prenatal screening

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Whole exome sequencing solution

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Comprehensive carrier screening

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Hereditary cancer panel testing

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Preimplantation Genetic Testing
for Aneuploidy (PGT-A)

Preimplantation Genetic Testing for Aneuploidy (PGT-A) refers to the testing of embryos derived from in vitro fertilization (IVF) to identify chromosomal aneuploidy. The purpose of PGT-A is to lower the chances of selecting an embryo with abnormal chromosome numbers for transfer, thus improving the chances of successful pregnancy while minimizing the risks associated with transferring such embryos.

What is chromosomal aneuploidy? 

Aneuploidy is the presence of an abnormal number of chromosomes in a cell that is caused by an extra or missing chromosome. Chromosomal aneuploidy is the leading cause of implantation failure, pregnancy loss, congenital abnormalities, and developmental disabilities in humans. 

Who is PGT-A indicated for?

PGT-A is suitable for most couples opting for IVF treatment but is mainly recommended for:

  • Women above 35 years of age
  • Couples experiencing repeated IVF failure
  • Women who have experienced one or more pregnancy losses
  • Women who have had a past pregnancy with chromosomal abnormalities
  • Couples affected by male factor infertility
  • Couples interested in sex selection

How is PGT-A performed?

PGT-A screens for aneuploidies in the whole set of chromosomes (1-22, X and Y), such as:

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edward syndrome)
  • Trisomy 13 (Patau syndrome)
  • Klinefelter syndrome (XXY)
  • Turner syndrome (X)
  • Triple X syndrome (XXX)
  • Jacob syndrome (XYY)

With PGT-A, only embryos without any missing or extra chromosomes will be prioritized for transfer. PGT-A adds significant value to an IVF treatment plan as it may:

  • Increase the chances of implantation and pregnancy
  • Reduce the risk of miscarriage
  • Reduce the number of IVF trials to achieve pregnancy
  • Increase the chances of giving birth to a healthy child

The PGT-A report will show the numerical chromosomal abnormalities (aneuploidy) for the cells biopsied from an embryo. All 24 chromosomes will be analyzed (1-22, X and Y). The aim of the PGT-A is to identify the embryo with the highest potential to implant. In the report, the result for each embryo will state one of the following:

  • Euploid
  • Aneuploid
  • Mosaic (presence of two or more populations of cells with different genetic compositions). For Mosaic embryos, some of the cells from the biopsy might be normal and some might be aneuploid
  • Partial gain or loss of genetic material (part of the chromosome is duplicated or deleted)