Genetic Testing & Carrier Screening

Preimplantation Genetic Testing (PGT-SR)

What is a Structural Chromosomal Rearrangement?

Chromosomal rearrangements occur when parts of chromosomes are rearranged, swapped, or inverted. In a balanced rearrangement, all the genetic material is present but located in the wrong place. Carriers of these rearrangements are often healthy and unaware of their condition until they experience recurrent pregnancy loss or IVF failure.

However, when they pass these chromosomes to their embryos, it can result in an unbalanced rearrangement, where genetic material is duplicated or deleted. This can lead to miscarriage, developmental delays, or birth defects.

What Does PGT-SR Do?

PGT-SR may be recommended for:

  • Individuals known to carry a chromosomal translocation or inversion
  • Couples with a history of recurrent miscarriage
  • Patients with multiple failed IVF attempts with no known cause
  • Those with a family history of chromosomal abnormalities
  • Individuals undergoing karyotype testing that reveals structural rearrangements

Limitations of PGT-SR

  • PGT-SR only screens for unbalanced chromosomal rearrangements. It does not detect single-gene disorders or all possible genetic conditions.
  • It requires prior knowledge of the parental chromosomal rearrangement, which is typically identified through karyotype testing.
  • While highly accurate, no genetic test can guarantee a healthy baby.

Our genetic team will review your family history and test results, and help create a personalized testing plan in coordination with the IVF and lab team.

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