Detecting chromosome rearrangements in embryos



Isolating embryos
with extra
or missing DNA

The FEC’s chromosome rearrangement testing identifies embryos with extra or missing genetic material. Embryos without a gain or loss of genetic material have a better chance of resulting in a health pregnancy and baby.
Our testing is greater than 98% accurate in screening for chromosome rearrangements and has the ability to detect unbalanced chromosomal material at a much higher resolution than standard aneuploidy screening. This allows you and your doctor to make an informed decision about which embryo(s) should be considered for transfer in your IVF cycle.
Talk to your doctor, nurse, or genetic counselor about chromosome rearrangement testing.

A chromosome rearrangement refers to chromosomal material that is arranged in a different order than is usual. Individuals who are carriers of a balanced rearrangement have a higher chance to pass on extra or missing genetic material to their embryos, leading to an increased risk of reproductive problems such as infertility, miscarriage, or the birth of a child with health problems such as birth defect or intellectual disability associated with extra or missing genetic material. If one or both members of the couple are carriers of an apparently balanced structural chromosome rearrangement, then PGT-SR can be performed.

PGTseq-SR at the FEC is performed via targeted next generation sequencing (tNGS) and determines if the embryo biopsy samples have extra or missing chromosome material (unbalanced translocation). PGTseq-SR testing includes PGTseq-A.

See the following for steps to the PGTseq-SR process:

Validation Phase
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STEP 1 Review karyotype
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STEP 2 Develop custom test (if needed)
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STEP 3 Inform clinical team we are ready to accept biopsy samples
Biopsy Phase
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STEP 1 Receive embryo biopsy samples
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STEP 2 Analyze DNA
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STEP 3 Report sent to your clinical team
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STEP 4 Schedule IVF transfer
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