What is PGT-SR?

Preimplantation Genetic Testing for Structural Chromosomal Rearrangements, or PGT-SR, is a genetic testing technique used in conjunction with in vitro fertilization (IVF) to check for structural chromosomal rearrangements in embryos. Balanced translocations and inversions are examples of these rearrangements, which might raise the risk of certain genetic diseases in kids or affect fertility.

What is structural chromosomal rearrangements?

Chromosomes, the thread-like structures in a cell's nucleus contain genetic information, can have their structure changed via a process called structural chromosomal rearrangements. Changes in the organization or sequencing of genetic material within or between chromosomes are included in these rearrangements.

Types of structural chromosomal rearrangements:

  • Translocations: Translocations occur when a segment of one chromosome breaks off and attaches to another chromosome.
  • Inversions: Inversions involve a segment of a chromosome being flipped 180 degrees and reinserted into the same chromosome.
  • Deletions: Deletions occur when a portion of a chromosome is missing or deleted. This can lead to the loss of specific genes, potentially causing developmental or health problems.
  • Duplications: Duplications involve the presence of extra copies of a segment of a chromosome.
  • Ring Chromosomes: In ring chromosomes, the ends of a chromosome fuse together to form a circular structure.

Who is PGT-SR for?

If you are a carrier of a translocation or inversion, PGT-SR is recommended for you.

Who can be benefits for PGT-SR?

PGT-SR can be especially beneficial for couples who are carriers of balanced translocations or inversions, as it allows them to select embryos that are less likely to carry these genetic abnormalities, thus increasing the chances of a healthy pregnancy and reducing the risk of miscarriage or birth defects.