Preimplantation genetic testing for structural rearrangements (PGT-SR) is
a test performed on embryo biopsies, speci cally designed to screen embryos for extra or missing chromosome material (also called aneuploidy) associated with a parental structural rearrangement.
WHO MAY BENEFIT FROM PGT-SR TESTING?
PGT-SR is appropriate for any couple in
which one member has been identified as having a balanced chromosome rearrangement.
“Structural” or “chromosomal” rearrangements refer to chromosomal material that is ordered differently than usual. Individuals who are carriers of a balanced chromosome rearrangement have a higher chance
of creating embryos with extra or missing genetic material, leading to fertility problems, pregnancy loss and/or health problems in an ongoing pregnancy.
There are different types of chromosome rearrangements including reciprocal translocations (chromosome material from two different chromosomes swap places), inversions (chromosome material is “ ipped over” within
a chromosome) and Robertsonian translocations (two different chromosomes are attached together). Genomic Prediction Clinical Laboratory has experience testing for all
of these rearrangements.
How is this information helpful?
Screening embryos for extra or missing genetic material may help you and your doctor decide which embryos should be prioritized for transfer.
How does the testing work?
Prior to testing, we review your genetic reports (karyotypes) in order to con rm that
we are able to proceed with PGT-SR. We request saliva samples from each member of the couple for quality control purposes. Once we perform a thorough review of your reports, embryo biopsy samples can be sent to our laboratory to evaluate each sample for chromosome imbalances related to the parental rearrangement. Once testing is completed, a genetic report is generated by our laboratory and sent to your physician.
Can I do PGT-A testing along with PGT-SR?
Yes, PGT-A (aneuploidy screening, also known as PGS) is included, at no additional charge, to screen for other forms of aneuploidy that are unrelated to the parental chromosome rearrangement.
Is PGT-SR accurate?
Yes, diagnostic accuracy is greater than 99.9%.
Questions continued on next page
I am interested in distinguishing
between embryos with normal karyotypes and embryos
that are positive for the balanced rearrangement. Is this possible? Yes. As long as we have data for comparison, it is possible to distinguish between embryos that inherited the balanced chromosome rearrangement identi ed in the parent and embryos that are negative for the rearrangement.
What other kinds of PGT studies are offered through
Genomic Prediction Clinical Laboratory (GPCL)?
We are the only laboratory that currently offers PGT for polygenic disorders, LifeViewTM –whichtestsforconditionsin uencedbygeneticvariantsinmorethan one gene. PGT-M studies are available for individuals with a personal or family history of monogenic (single-gene) disorders.
I have questions about testing. Who can I talk to?
Genetic counseling is an important component of PGT studies. We provide free pre-test genetic counseling to help address your questions and guide you through this process.
Genomic Prediction Clinical Laboratory
GPCL’s advances in genetic testing provide couples undergoing IVF a cost-effective means to “look into the future” of their unborn child’s health. We can accurately predict his or her risk for many genetic conditions — due to chromosomal abnormality; monogenic disorders; and polygenic diseases such as
Type 1 and Type 2 Diabetes, Breast Cancer and Coronary Artery Disease.