PGT-A with Structural Rearrangement Analysis
PGT-A with Structural Rearrangement Analysis and PN Check
What is this test?
This advanced version of PGT-A is specifically designed for couples where one or both partners carry a known chromosomal structural rearrangement — such as a reciprocal translocation, Robertsonian translocation, or inversion. These rearrangements can cause embryos to inherit unbalanced chromosomes, leading to implantation failure, miscarriage, or birth defects. PGT-A Structural screens every embryo for both aneuploidy and the specific segmental imbalances associated with the parental rearrangement, plus pronuclear (PN) status to identify fertilization abnormalities.
Key Benefits
Customized analysis specifically designed around the parental chromosomal rearrangement, detecting the precise segmental imbalances expected.
Detects segmental imbalances down to approximately 10 Mb — significantly finer resolution than standard PGT-A for translocation-related imbalances.
Screens for both the structural rearrangement products AND standard whole-chromosome aneuploidies in a single test.
Pronuclear assessment identifies abnormal fertilization events that could lead to triploidy or other fertilization-related abnormalities.
How It Works
Before testing, our genetics team reviews the parental karyotype to design a customized analysis protocol targeting the specific breakpoints and expected unbalanced products of the rearrangement.
Your fertility specialist performs trophectoderm biopsy on Day 5/6 blastocysts. Embryos are vitrified while awaiting results.
DNA from biopsied cells undergoes whole genome amplification and low-pass sequencing on the Illumina platform, generating high-resolution chromosome copy number data.
Our bioinformatics pipeline performs both standard aneuploidy screening and targeted analysis for segmental imbalances specific to the parental rearrangement, plus PN-check for fertilization abnormalities.
Each embryo is classified as balanced/normal, unbalanced (carrier of deletion/duplication), or aneuploid. Results are reported with detailed segmental maps and genetic counseling is available.
Who should consider this test?
- Couples where one or both partners carry a balanced translocation (reciprocal or Robertsonian)
- Carriers of chromosomal inversions (paracentric or pericentric)
- Couples with recurrent pregnancy loss potentially linked to chromosomal rearrangements
- Patients with a known structural rearrangement identified on karyotype
- Couples referred by their fertility specialist or genetic counselor
Accuracy & Clinical Evidence
Over 98% detection rate for unbalanced structural rearrangements with segmental resolution down to approximately 10 Mb, validated against karyotype and FISH confirmation studies.
PGT for structural rearrangements has been shown to significantly reduce miscarriage rates in translocation carrier couples from ~50% to rates comparable to the general IVF population. Multiple studies demonstrate that selecting balanced/normal embryos leads to improved live birth rates and reduces the emotional and financial burden of repeated pregnancy losses.
For Healthcare Providers
PGT-A Structural uses low-pass whole genome sequencing with enhanced bioinformatics analysis tuned to the parental breakpoints. The pipeline resolves segmental imbalances to approximately 10 Mb for translocation-specific segments and >20 Mb for genome-wide screening. Pronuclear assessment is integrated into the workflow. Each case requires a pre-test setup phase where parental karyotype is reviewed to define expected unbalanced products and optimize detection parameters. PGDIS classification guidelines are followed for reporting.
Important Limitations
- Cannot distinguish between a balanced carrier state and a completely normal chromosome complement — both appear as 'balanced/normal' on PGT-A.
- Very small segmental imbalances near the rearrangement breakpoints (<10 Mb) may not be reliably detected.
- Mosaicism within the embryo can complicate interpretation.
- A balanced/normal PGT-A result does not guarantee pregnancy success — other factors influence implantation.
- Parental karyotype is required before testing can be performed to design the custom analysis.
Frequently Asked Questions
Test Details
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