Case Studies — Using Genetics to Guide Care

Genetic testing and carrier screening provide more than just “risk reports.” When used correctly, they shape real clinical decisions: which embryos to transfer, which medications or timelines to choose, whether donor gametes are appropriate, and how to plan for pregnancy risks.
Case studies help make this real—showing how genetics changes care pathways, not just paperwork.

Where it fits:

• Preconception planning
• IVF with PGT-A or PGT-M
• Expanded carrier screening (ECS)
• Donor selection (egg, sperm, embryo)
• High-risk pregnancy assessment

What it changes:

• Which embryos are considered transferable
• Whether additional testing is needed
• Timing of IVF cycles
• Cost predictions for treatment vs prevention
• Long-term family planning decisions

Upstream decisions—sample type, test panel, partner testing—directly influence downstream outcomes like pregnancy success, miscarriage prevention, and future child health.

Who It Helps

You might benefit from genetics-guided care if you have:

• A personal or family history of genetic disease
• Multiple IVF failures or recurrent miscarriage
• Known carrier status for recessive or X-linked conditions
• A partner with limited or unknown genetic background
• Interest in donor gametes + extra reassurance
• High-risk pregnancy history (e.g., neural tube defects, thalassemia, SMA, CF)

When this may not be the right path:

• Low-risk couples with normal basic labs and no family history
• Patients focused on quick, low-intervention conception
• Cases where testing costs exceed expected clinical benefit

Step-by-Step

A simple sequence with timing checkpoints that protect embryo quality while reducing stress

1. Baseline Visit
   Review family history, ancestry, and reproductive goals.

2. Order Carrier Screening for Both Partners
   Larger panels generally add clarity without delaying timelines.

3. Interpret Results With a Genetic Counselor
   Focus on actionable genes, not every variant.

4. Decide Whether PGT-A or PGT-M Needed
   Based on the combined risk profile.

5. Plan the IVF Cycle
   Adjust stimulation strategy if needed (especially for PGT-M).

6. Embryo Biopsy + Testing
   Confirm which embryos are transferable.

7. Clear Transfer Plan With Thresholds
   Define “green-light,” “yellow-light,” and “no-go” scenarios upfront.

Pros & Cons

Pros

• Higher chance of transferring a healthy embryo
• Reduced miscarriage risk
• Avoids surprise neonatal diagnoses
• Guides donor selection when needed
• Prevents future emotional and financial stress

Cons

• Added upfront cost
• Slightly longer timelines when PGT-M is required
• Not all variants are actionable
• May create anxiety if results are poorly explained

Costs & Logistics

Common cost components include:

• Carrier screening (per partner): ₹10,000–₹35,000
• PGT-A (per embryo batch): additional lab fees
• PGT-M (custom test development): higher initial cost
• Genetic counseling session: often included, sometimes extra
• Insurance prior authorization: required for certain panels
• Sample shipping + lab handling fees

To prevent surprise bills:

• Confirm what is billed under insurance vs self-pay
• Ask about bundled genetic testing packages
• Track consent forms, lab IDs, and billing dates

What Improves Outcomes

High-impact actions

• Testing both partners before IVF
• Choosing expanded panels when family history is unclear
• Reviewing results with a genetics specialist
• Building a transfer plan using genetics + embryo grade
• Using donor gametes when both partners carry high-risk recessive mutations

Low-impact actions (rarely change results)

• Repeating the same carrier test at multiple labs
• Paying for ultra-large panels without clinical reasoning
• Over-interpreting variants of uncertain significance (VUS)

Case Study

From confusion → clarity → a healthy transfer

A couple struggled with two miscarriages and no clear explanation. Their expanded carrier screening revealed that both partners were carriers of the same recessive metabolic condition.

Steps taken:

• PGT-M was developed to identify unaffected embryos
• IVF cycle was planned with biopsy in mind
• Five embryos were created; three were unaffected
• Testing costs were clarified upfront through prior authorization
• A clear transfer sequence was created (“transfer unaffected + PGT-A normal only”)

Outcome:
A single embryo transfer resulted in a healthy pregnancy, avoiding recurrence of a preventable genetic condition—saving emotional, medical, and long-term financial costs.

Mistakes to Avoid

• Testing only one partner
• Ignoring ancestry-based risks (e.g., thalassemia, Tay-Sachs)
• Failing to confirm which variants are clinically significant
• Not planning IVF stimulation around PGT-M timelines
• Delaying decisions because results seem “overwhelming”

FAQs

Q. Do all couples need expanded carrier screening?

Ans : Not always, but it’s recommended when family history is unknown or mixed.

Q. Does PGT-A replace PGT-M?

Ans : No. PGT-A checks chromosome number; PGT-M checks specific genetic diseases.

Q. Can genetics reduce miscarriage?

Ans : Yes, especially when recurrent loss is due to chromosomal or monogenic errors.

Q. Will results affect insurance or employment?

Ans : Typically no, but policies vary—always confirm locally.

Q. Is donor gamete selection guided by genetics?

Ans : Yes. Matching donor and recipient carrier status prevents recessive disease risk.

Next Steps

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

Related Links

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