PGT‑SR for Translocations

PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements) identifies embryos with the correct chromosomal structure when one or both parents carry a translocation or inversion.

In simple terms:

• It checks whether an embryo inherited a balanced, normal, or unbalanced chromosome arrangement.
• It helps avoid embryos unlikely to implant or likely to lead to miscarriage or genetic disease.
• It does not increase the number of embryos—only sorts the ones you have.

Where it fits:

• Used within an IVF cycle
• Recommended when structural chromosome changes are confirmed on parental karyotype
• Strongly influenced by upstream factors—especially embryo quality, biopsy timing, lab techniques, and sperm/egg health

Who It Helps

Signals That Suggest a Good Fit vs When to Consider Another Path

Good Fit Signals

PGT-SR is usually appropriate when:

• A parent has a balanced translocation
• A parent has an inversion or other structural rearrangement
• There is a history of recurrent miscarriage
• Previous embryo transfers resulted in no implantation despite good-quality embryos
• You want to reduce the chance of an unbalanced pregnancy
• You expect a reasonable number of embryos (≥3–4 blastocysts)

When It May Not Be the Best Fit

PGT-SR may offer limited benefit when:

• Only one embryo is expected (low ovarian reserve, age >40)
• The exact structural rearrangement is uncertain (no karyotype yet)
• IVF is not feasible due to medical or financial reasons
• Time-sensitive planning doesn’t allow for test optimization
• Miscarriage history may be caused by factors other than genetics (uterine issues, clotting disorders, sperm DNA fragmentation, etc.)

Integrating labs (AMH, AFC), semen analysis, and imaging helps determine the realistic expected embryo count—and therefore, the usefulness of PGT-SR.

Step-by-Step

A Simple, Low-Stress Sequence With Timing Checkpoints

1. Genetic Counseling + Parental Karyotyping
   – Confirm and classify the structural rearrangement.

2. IVF Stimulation Planning
   – Protocol optimized to generate the highest number of mature eggs.

3. Egg Retrieval → Fertilization (ICSI recommended)
   – ICSI helps avoid contamination during biopsy analysis.

4. Embryo Culture to Day 5–7
   – Blastocysts evaluated for suitability for biopsy.

5. Trophectoderm Biopsy + Freeze
   – Cells removed and embryos vitrified.

6. PGT-SR Testing (1–3 weeks)
   – Embryos classified as normal, balanced, or unbalanced.

7. Transfer Planning
   – Prioritize normal or balanced embryos depending on clinical goals and counseling.

Checkpoints prevent rushed decisions, keep embryo quality safe, and reduce anxiety around timing.

Pros & Cons

Clear, Balanced Expectations

Pros

• Helps select embryos with the highest chance of implantation
• Reduces the likelihood of miscarriage caused by unbalanced chromosomal rearrangements
• Prevents transfers unlikely to succeed
• Allows more informed family planning
• Can shorten the path to a successful pregnancy if multiple embryos exist

Cons / Trade-Offs

• Requires IVF even if you don’t have infertility
• Does not increase the number of embryos available
• Higher risk of getting no transferable embryos in some cases
• False negatives/positives are rare but possible
• Added cost and time
• Emotional impact when many embryos are unbalanced

Costs & Logistics

Line Items + How to Avoid Surprise Bills

Cost components typically include:

• Embryo biopsy fees
• PGT-SR test panel charges (often bundled per embryo or batch)
• Shipping/courier fees
• Embryo freezing and storage
• Follow-up consults
• Possible add-on PGT-A (if recommended based on age)

Planning tips:

• Confirm insurance prior authorization requirements early
• Track costs in a simple cycle worksheet
• Ask whether fees are per embryo or per batch
• Understand what happens financially if no embryos are suitable for transfer
• Clarify long-term storage fees to avoid end-of-year surprises

What Improves Outcomes

Actions That Truly Change Results

High-Impact Actions

• Using protocols designed to maximize mature egg retrieval
• Choosing an experienced embryology lab with strong biopsy performance
• ICSI to limit contamination risk
• Timing the trigger shot precisely for optimal egg maturity
• Thorough pre-cycle planning to set expectations for embryo numbers
• Addressing sperm DNA fragmentation if relevant

Low-Impact or Low-Yield Actions

• Over-supplementation beyond evidence-backed basics
• Re-biopsying poor-quality or nearly collapsed blastocysts
• Adding “immune testing” without clinical justification
• Assuming PGT-SR replaces prenatal screening (it doesn’t)

Case Study

From Uncertainty to Clarity Through Defined Thresholds

A 34-year-old woman with a balanced Robertsonian translocation and two previous miscarriages entered IVF unsure whether PGT-SR would change anything.

Through:

• Early genetic counseling
• A stimulation plan built around maximizing mature eggs
• A defined threshold: “Proceed with PGT-SR only if ≥4 blastocysts are available”
• Transparent cost tracking
• Clear rules about prioritizing normal vs balanced embryos

The cycle produced five blastocysts. PGT-SR identified two normal and one balanced embryo. A single normal embryo transfer resulted in a healthy pregnancy—and avoided additional miscarriages and unnecessary transfers.

Mistakes to Avoid

Common Traps + Simple Solutions

• Starting IVF without confirming a parental karyotype
• Assuming PGT-SR will guarantee a normal embryo
• Not discussing the differences between balanced and normal embryo outcomes
• Expecting all clinics to use the same testing technology
• Forgetting to check storage fees or courier costs
• Biopsying extremely poor-quality embryos when findings won’t change decisions
• Over-interpreting “no-result” embryos without a lab-specific plan

FAQs

Q. Does PGT-SR guarantee a successful pregnancy?

Ans : No—but it significantly reduces the chance of transferring an unbalanced embryo.

Q. Can a balanced embryo lead to a healthy baby?

Ans : Yes. Balanced embryos typically grow into balanced carriers like the parent.

Q. Should we also do PGT-A?

Ans : Often recommended if age-related aneuploidy risk is significant.

Q. What if all embryos are unbalanced?

Ans : This is possible. Many patients choose another IVF cycle or explore donor gametes.

Q. How long does testing take?

Ans : Usually 7–21 days depending on lab workload and testing complexity.

Next Step

• Free 15-min nurse consult
• Upload your labs for a personalized review
• Receive a customized cost breakdown for your case

Related Links

• Genetic testing carrier
• Intended Parents
• Become a Surrogate
• Fixed‑Cost Packages
• SART
• CDC ART
• ASRM