Carrier screening tests whether you carry a gene variant for conditions like cystic fibrosis, sickle cell disease, spinal muscular atrophy, fragile X syndrome, and others. Carriers are healthy — they have one working copy of the gene — but if both parents carry a variant for the same condition, each pregnancy has a 25 percent chance of being affected.
ACOG recommends that carrier screening be offered to all pregnant people (or ideally before pregnancy). Expanded carrier panels now test for over 100 conditions with a single blood draw. If you are found to be a carrier, your partner should be tested as well.
Carrier screening is different from the NIPT, which screens for chromosomal conditions. They test for different things and are complementary.