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How can PGT-SR for chromosomal rearrangements help my patients?

Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) can be used for chromosomal rearrangements including translocations, inversions, deletions and duplications. This can identify chromosomal abnormalities caused by these rearrangements, prior to achievement of a pregnancy. PGT-SR is performed in conjunction with an In Vitro Fertilization (IVF) cycle.

RGI offers PGT-SR for chromosomal rearrangements by Next-Generation Sequencing (NGS) and array Comparative Genomic Hybridization (aCGH), which automatically includes 24-chromosome PGT-A.

Preimplantation Genetic Testing (PGT) for translocations: Changing PGT policy due to technological developments

With recent developments in the next generation technologies (NGS), FISH-based testing for chromosomal rearrangements (PGT-SR) will be replaced with NGS for detection of rearranged translocated fragments no smaller than 4-5 Mbp. The method detects not only unbalanced embryos, but also allows identifies aneuploid embryos. A special family design will also be required for distinguishing the balanced from normal embryos, as previously used conversation methods for this pursue have also been discontinued. For smaller fragments, the development of a special design will be required, which should be discussed in advance. IqSpecifically each translocation case should be re-reviewed by RGI to determine feasibility, prior to the patient starting stimulation.