Both Partners Are Carriers — Options

When expanded carrier screening shows that both partners carry a variant for the same recessive condition, it can feel overwhelming—but this is exactly the stage where clear pathways and thoughtful planning make the biggest difference. This article focuses on options that truly change outcomes, budgets, and timelines, so you can move forward with confidence.

What It Is

Both Partners Are Carriers — Options in plain English means:

• What it means to be carriers of the same autosomal recessive condition.
• What your chances are in a natural pregnancy (25% affected, 50% carrier, 25% unaffected).
• The tools available to avoid passing on the condition: PGT-M, donor gametes, embryos, adoption, or natural conception with prenatal testing.
• How upstream decisions—testing, timelines, insurance, lab setup—shape what happens downstream.

This is not a genetics lecture; it’s a decision map you can actually use.

Who It Helps

Signals You’re a Good Fit for This Pathway

• Expanded carrier screening shows both partners carry the same recessive condition.
• You want to reduce the risk of having an affected child.
• You’re considering IVF with PGT-M but unsure how it works or what it changes.
• You’re weighing donor eggs, donor sperm, or donor embryos.
• You want to understand costs and timelines before you commit.
• You’re planning a natural pregnancy but want clarity on prenatal testing options.

When Another Path May Fit Better

• You carry different recessive conditions (no combined risk).
• The variant is of uncertain significance (VUS) and not clinically actionable.
• One partner has a dominant condition (different testing pathway).
• You have infertility factors that override carrier status as the main driver of decisions.

Step-by-Step — A Simple Sequence That Reduces Stress

1. Confirm the Variants
Your clinic or lab ensures both partners truly carry pathogenic variants in the same gene, not VUS or different gene forms.

2. Meet With a Genetic Counselor
They explain the condition, severity, and action paths.
Key checkpoint: Do you want to eliminate the risk before pregnancy or test during pregnancy?

3. Select Your Path: Preconception or Prenatal

If Preconception Path

• PGT-M with IVF
  Lab builds a custom test (6–10 weeks).
  Retrieve eggs → create embryos → biopsy → transfer unaffected embryos only.
• Donor Gametes or Donor Embryos
  No PGT-M needed because the risk is removed upfront.

If Prenatal Path

• Natural conception → CVS/amnio at 10–16 weeks to test the fetus.
• Requires readiness for all possible outcomes (continue, prepare, or consider termination depending on local laws and personal preferences).

4. Build Your Calendar
Your clinic assigns dates for:

• Test development (PGT-M)
• IVF cycle(s)
• Embryo biopsy turnaround
• Transfer windows
• Prenatal testing windows (if applicable)

5. Set Thresholds
Examples:

• “If we get fewer than 3 embryos → consider banking another cycle.”
• “If test development exceeds 10 weeks → adjust transfer timeline.”

Pros & Cons

Pros

• Allows avoiding a serious genetic condition.
• Offers multiple paths depending on values, cost, and urgency.
• PGT-M is highly accurate when built correctly.
• Removes uncertainty early rather than waiting until the 1st trimester.
• Can combine with PGT-A for age-related aneuploidy.

Cons

• PGT-M development adds time (6–10+ weeks).
• IVF cycles may be needed even if you don’t otherwise have infertility.
• Some embryos may not be suitable for testing (poor quality, low cell count).
• Natural conception + prenatal testing carries emotional and ethical complexity.
• Insurance may only partially cover PGT-M or IVF.

Costs & Logistics

Typical Line Items

• Expanded carrier screening (already done).
• PGT-M test development fee.
• IVF cycle (retrieval, medications, monitoring).
• Embryo biopsy + testing fees.
• Optional PGT-A.
• Genetic counseling session(s).
• Prenatal testing (CVS or amnio) if taking the natural conception path.

Insurance

• Many insurers cover PGT-M if both partners are carriers.
• IVF coverage varies widely even when PGT-M is medically indicated.
• Medications often require separate authorization.

Simple Cash-Flow Strategy

• Pay in stages: development → IVF cycle → biopsy → transfer.
• Build a shared spreadsheet: ordered → billed → insurance → paid.
• Request written verification for test-development coverage.

What Improves Outcomes

Actions That Truly Move the Needle

• Completing PGT-M test development before stimulation (avoid waiting).
• Banking embryos if ovarian reserve is low.
• Choosing a lab with strong PGT-M validation and reporting systems.
• Combining PGT-M + PGT-A when maternal age >35.
• Optimizing sperm quality before IVF (lifestyle, supplements, timing).

Actions That Rarely Change Results

• Repeating carrier screening for reassurance.
• Skipping genetic counseling.
• Relying solely on morphology instead of genetic information.
• Making decisions before understanding whether the condition is severe or mild.

Case Study — From Fear to a Forward Plan

Situation:
A couple discovers they are both carriers for SMA during preconception screening. They are 32 and otherwise healthy.

Approach:

• Genetic counseling clarifies severity and recurrence risk.
• Chose IVF with PGT-M.
• Test development took 7 weeks.
• One IVF cycle produced 5 blastocysts → 3 tested → 2 unaffected.

Outcome:
First transfer resulted in a healthy pregnancy.
They preserved the second unaffected embryo for future family building.

Mistakes to Avoid

• Assuming PGT-A alone is enough (it does not test for recessive conditions).
• Starting IVF before PGT-M is built.
• Underestimating how long test development takes.
• Skipping prenatal testing even after donor conception (verification is still recommended).
• Not clarifying whether both partners’ variants are clinically significant.
• Forgetting to update insurance when switching clinics or labs.

FAQs

Q: What are our chances in a natural pregnancy?

Ans : 25% affected, 50% carrier, 25% unaffected for recessive conditions.

Q: Is PGT-M accurate?

Ans : Yes—typically 95–99% when the test is custom-built with family samples.

Q: Do we need PGT-A too?

Ans : Often yes if age-related aneuploidy is a concern (>35).

Q: Can we use donor eggs or sperm instead of IVF + PGT-M?

Ans : Yes—this removes the genetic risk entirely.

Q: What if the condition is mild?

Ans : Genetic counseling helps clarify whether reproductive intervention is necessary.

Q: How long does PGT-M development take?

Ans : Usually 6–10 weeks; rarely longer if additional relatives’ samples are needed.

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