Positive Carrier Screening: What Your Results Mean

A positive result is a starting point

Learning that you carry a genetic condition can feel unsettling. A positive carrier screen usually means you have a gene change that could be passed to a child. It does not, by itself, mean your baby has the condition.

Carrier screening is different from NIPT, which screens a pregnancy for certain chromosome conditions.

What testing options are available?

Testing may focus on a specific condition in your family or use an expanded panel that checks many conditions. A blood or saliva sample is commonly used. Screening is optional and can be done before or during pregnancy.

If a result is positive, your care team may recommend testing the baby’s other biological parent and meeting with a genetic counselor. A negative result lowers the chance of being a carrier but cannot eliminate it. ACOG: Carrier screening

Recessive, dominant, and X-linked conditions

• Autosomal recessive: A child generally needs a disease-causing change in both copies of a gene. If both biological parents carry the same condition, each pregnancy has a 25% chance of being affected.
• Autosomal dominant: One changed copy can cause a condition. A parent with one disease-causing copy often has a 50% chance of passing it on.
• X-linked: The gene change is on the X chromosome. Risks depend on the specific condition and which parent carries it.

These terms describe inheritance, not how mild or serious a condition is. MedlinePlus: Inheritance risks

Next steps and results

When a pregnancy is at increased risk, counseling may include diagnostic testing with CVS or amniocentesis. Before pregnancy, options may also include IVF with embryo testing or donor eggs or sperm. Testing and family-building decisions are personal. ACOG: Screening and counseling

Results from the carrier screening test used at Davie ObGyn usually take about two weeks. Partner testing adds another testing cycle.

Frequently asked questions