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Evidence Library · Other screening

Carrier screening

A test about you and your partner, not about the baby.

Carrier screening tests whether you carry a gene change for a recessive condition. Being a carrier does not affect your health. It matters only if your partner carries a change in the same gene, in which case each pregnancy has a 1 in 4 chance of being affected.

ACOG guidance states that information about carrier screening should be provided to every pregnant woman, that it is ideally done before pregnancy, and that a patient may decline any or all screening. Ethnicity-based, panethnic and expanded panels are all described as acceptable strategies.

Best done before pregnancyThe results are most useful when there is time to test a partner and consider options. If you are planning a pregnancy, this is the one test worth doing early rather than during.
Where this comes from:
154. American College of Obstetricians and Gynecologists' Committee on Genetics. Carrier screening for genetic conditions. ACOG Committee Opinion No. 691. Obstet Gynecol. 2017;129(3):e41-e55.

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This page is educational. It supports the conversation with your own clinicians. It is not consent to any treatment, and it cannot assess you. If you are worried about a symptom now, see urgent warning signs.