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PGT-SR

PGT-SR, a preimplantation genetic examination for structural chromosomal rearrangements, is a genetic test performed to check for chromosomal structural rearrangements usually induced by balanced translocations and inversions on embryos generated via IVF. 

A pre-conception genetic test investigates a sample of blood or saliva to look for single gene defects that would lead to disastrous genetic disorders, like:

  • Cystic Fibrosis
  • Sickle cell anemia
  • Muscular dystrophy
  • Polycystic Kidney
  • Tay-Sachs
  • Hemophilia

The genetics lab uses either a known probe or genetic material from the blood of the couple to establish a genetic probe unique to the disease they bear, if the carrier screening test shows one or both members of the couple have a defective gene. In order to ascertain whether the embryo has an abnormality, this probe is then coupled with 6-8 cells derived from each healthy appearing embryo on Day 5, 6, or 7 obtained from IVF. PGT-SR decreases the risk of developing an unbalanced structural abnormality in a pregnancy or infant that requires extra or absent genetic material and usually result in the loss of pregnancy.