Preconception Carrier Screening

Carrier screening detects whether an individual carries one copy of a recessive genetic mutation. Carriers are typically healthy but can pass the gene to children. When both partners are carriers of the same condition (e.g., cystic fibrosis, spinal muscular atrophy, fragile X), each pregnancy has a 25% chance of being affected.

Expanded carrier screening panels now test for 200–500+ conditions from a single saliva or blood sample. ACOG and ACMG recommend offering expanded carrier screening to all patients planning a pregnancy.

If both partners are identified as carriers, options include natural conception with prenatal diagnosis, IVF with PGT-M to test embryos before transfer, or use of donor gametes.