Should You Test for Genetic Conditions Before Conception? A Guide for Future Parents

Understanding Genetic Carrier Screening Before Pregnancy

Planning to have a baby is one of the most exciting and life-changing decisions you can make. But alongside nursery ideas and name lists, there’s one conversation that often gets overlooked - genetic carrier screening before conception.

If you’re asking yourself, “Should I get tested for genetic conditions before trying to conceive?” - you’re not alone. Many couples are unaware that they could be silent carriers of inherited disorders that may affect their children. Carrier screening offers answers and peace of mind before pregnancy begins.

What Is Preconception Carrier Screening?

Preconception genetic carrier screening is a simple test that checks whether you or your partner carry genes for inherited conditions -even if you have no symptoms or family history.

Most people are “silent carriers”, meaning they have one faulty gene but don’t know it. If both parents are carriers of the same condition, there’s a 25% chance with each pregnancy that the child will inherit the condition.

This screening typically tests for:

• Cystic fibrosis
• Spinal muscular atrophy (SMA)
• Tay-Sachs disease
• Thalassemia and sickle cell disease
• Fragile X syndrome
• Hundreds of other rare but serious genetic conditions

The test is done via a simple saliva or blood sample - and results are usually ready in a few weeks.

Why Get Tested Before Pregnancy?

1. You Get More Options

Testing before conception gives you time, space, and options - like:

• IVF with embryo screening
• Egg or sperm donor
• Prenatal diagnostic testing
• Adoption
• Planning for medical support early

You’re not under time pressure, and decisions are proactive rather than reactive.

2. Genetic Conditions Don’t Always Run in Families

Up to 80% of babies born with a genetic condition have no family history. Just because no one in your family has a disease doesn’t mean you’re not a carrier.

Carrier screening uncovers risks that would otherwise remain hidden.

3. Better Prepared = Less Stress Later

Facing a potential diagnosis during pregnancy can be emotionally overwhelming. Preconception screening allows couples to plan confidently and reduce emotional distress later.

4. It’s Safe, Non-Invasive, and Science-Backed

Carrier screening is typically done using saliva or blood samples, and results are delivered confidentially. It’s recommended by major health organisations like the ACOG, RCOG, and Genetics Alliance UK - especially for couples from higher-risk backgrounds.

Who Should Consider Carrier Screening?

• Couples planning pregnancy in the next 6–12 months
• People with a partner or spouse from a similar ethnic background (some conditions are more common in certain groups)
• Those who have a family history of unexplained infant loss or inherited conditions
• Anyone who wants to take a proactive and informed approach to family planning

Is Carrier Screening Available on the NHS?

The NHS offers limited carrier screening -often based on ethnicity or family history (e.g., for sickle cell or Tay-Sachs disease). But comprehensive screening for over 400 genetic conditions is generally only available privately.

At Phenome Longevity, our carrier screening test covers hundreds of inherited disorders using whole genome sequencing - offering more accurate, in-depth insights than basic NHS panels.

What If You and Your Partner Are Both Carriers?

If both partners are carriers for the same condition:

• A genetic counsellor will help you understand the risks.
• You’ll receive options and support to make decisions aligned with your values.
• You’ll be able to plan for future pregnancies with clarity and confidence.

Final Thoughts: Knowledge Is Empowering

Genetic testing before conception is not about fear - it’s about empowerment. It’s about understanding your unique risks, protecting your future family, and having the opportunity to make proactive choices based on science, not chance.

Whether you’re just beginning your fertility journey or actively trying to conceive, carrier screening is one of the most powerful tools for informed parenthood.