When Should You Get Carrier Screening?

Compare preconception and prenatal carrier screening, and learn the best timing for you and your partner.

Carrier screening can be done at two main times: before pregnancy or during pregnancy. Each timing has advantages, and the best choice depends on your situation.

Preconception carrier screening gives couples the most options. If both partners are carriers of the same condition, you can consider in-vitro fertilization with preimplantation genetic testing, use a donor egg or sperm, pursue diagnostic testing during pregnancy, or prepare for a child who may need specialized care.

Carrier screening during pregnancy still provides useful information. It can guide decisions about diagnostic tests such as chorionic villus sampling or amniocentesis. It also helps your obstetrician and pediatric team prepare for possible newborn care needs.

ACOG recommends that carrier screening be offered to people who are pregnant or planning pregnancy. Ideally, screening is done before conception so results are available early. If only one partner can be tested first, the biological mother is usually screened first because some conditions are X-linked or have higher carrier frequencies in certain populations.

If your initial screening is negative but you have a family history of a genetic condition, ask about targeted testing for that specific condition.

References

• ACOG. Carrier Screening FAQ. https://www.acog.org/womens-health/faqs/carrier-screening
• American College of Medical Genetics and Genomics (ACMG). Carrier Screening Recommendations.