PGT-SR: Preimplantation genetic testing for structural chromosomal abnormalities
We recommend preimplantation genetic testing for structural chromosomal abnormalities (PGT-SR) if one of the partners is a carrier of chromosomal abnormalities.Book a consultation
What can PGT-SR detect?
Preimplantation genetic testing for structural chromosome abnormalities (PGT-SR) is intended for all couples who have been demonstrated to have abnormal chromosome rearrangements in their genetic make-up, for example:
Translocation (shift of part of a chromosome to another).
Deletion (absence of part of a chromosome).
Duplication (of part of a chromosome).
If the disorder does not manifest in the individual, it is a so-called balanced defect. However, it is evident in germ cells and is passed on to offspring during reproduction. The result is an embryo with severe defects that usually aborts spontaneously.
How is testing conducted?In the context of preimplantation genetic testing of structural chromosome abnormalities, a sample of several cells is taken from the blastocyst (on the 5th day of development), and these undergo DNA analysis, most often using:
- NGS (Next Generation Sequencing) to detect additional or missing chromosomes.
- Karyomapping, which enables the detection of balanced abnormalities, even if the number of chromosomes is normal.