Preimplantation Genetic Testing for Structural Rearrangements, or PGT-SR, is designed for individuals who carry chromosomal rearrangements such as translocations or inversions. These rearrangements may increase the risk of embryos with missing or duplicated genetic material, which may result in miscarriage

PGT-SR helps identify embryos with the correct amount of chromosome material prior to transfer.

Normal Chromosomal Arrangement

Normal

Balanced Chromosomal Arrangement

Balanced

Unbalanced Chromosomal Arrangement

Unbalanced

PGT-SR Icon What Is a Chromosomal Rearrangement?

Chromosomal rearrangements are structural changes in chromosomes. Many carriers are healthy and only become aware of their status during fertility investigations.

Common types include:

  • Reciprocal translocations
  • Robertsonian translocations
  • Inversions

Carriers may produce embryos with normal, balanced, or unbalanced chromosomal arrangements.

Who Should Consider PGT-SR?

PGT-SR may be appropriate if:

  • You are a known carrier of a chromosomal rearrangement
  • You have experienced recurrent miscarriage
  • You have had a previous pregnancy affected by a chromosomal imbalance
  • A confirmed karyotype is required before testing
Normal Nonhomologous, Acrocentric Chromosomes

Normal Nonhomologous,
Acrocentric Chromosomes

Breakage and Rejoining

Breakage and Rejoining

Robertsonian Translocation

Robertsonian Translocation

Paracentric Inversion

Paracentric Inversion
(Does not include centromere)

Pericentric Inversion

Pericentric Inversion
(Includes centromere)

How the PGT-SR Process Works

Most cases follow a similar process to PGT-A. Embryos are biopsied and analysed to determine if the correct amount of chromosome material is present.

In some complex cases, a PGT-M style customised approach may be required.

PGT-SR cannot distinguish between a balanced carrier and a non-carrier embryo.

Frequently Asked Questions

Find answers to common questions about PGT-SR:

Embryo biopsy is considered safe when performed by experienced embryologists.

No genetic test guarantees a child will not have medical issues. PGT-SR focuses specifically on determining that the correct amount of chromosome material is present.

Medical aids do not currently cover PGT-SR.