Carrier screening checks if you carry genes for conditions like cystic fibrosis, sickle cell disease, or Tay-Sachs. ACOG recommends offering carrier screening to everyone before or during early pregnancy.
How It Works
You're only at risk of having an affected child if both partners carry the same recessive gene.
Testing process
- Simple blood test or cheek swab
- If you test positive for a condition, your partner gets tested
- If you both carry the same gene, genetic counseling discusses options
When to Screen
Before conception — gives you the most options if both partners test positive:
- IVF with genetic testing (PGT)
- Use of donor eggs or sperm
- Prenatal diagnosis during pregnancy
- Proceeding without intervention
Early pregnancy screening — Cell-free DNA (cfDNA) testing or NIPT (non-invasive prenatal testing) is increasingly standard and typically done around 10 weeks and screens the baby for chromosomal conditions like Down syndrome.
Who Should Screen
- Anyone with a family history of genetic conditions
- People of Ashkenazi Jewish ancestry (higher rates of Tay-Sachs, Gaucher disease, familial dysautonomia, others)
- People of Mediterranean ancestry (higher rates of thalassemia, sickle cell)
- People of Southeast Asian ancestry (higher rates of thalassemia)
- People of African ancestry (higher rates of sickle cell disease)
For Everyone Else
It's optional but increasingly common. Insurance coverage varies, so check with your provider for expanded carrier screening panels.
What Happens If You're Both Carriers
If you both test positive for the same condition, you have options:
Before conception:
- IVF with preimplantation genetic testing (PGT) — embryos are tested before transfer
- Use donor eggs or sperm
- Natural conception with prenatal diagnosis
- Proceed without intervention (25% chance of an affected child per pregnancy)
During pregnancy:
- Amniocentesis or CVS to test if baby is affected
- Prepare for a child with the condition
- Termination if that aligns with your values
A genetic counselor can walk you through the specific condition, inheritance patterns, and your options.
Being a carrier doesn't affect your own health — it only matters if both partners carry the same recessive gene.