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Genetic Counseling & Pregnancy Screening

Understand what prenatal screening can tell you and which questions to ask before deciding.

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Making sense of screening choices

Pregnancy screening can introduce unfamiliar names, numbers and decisions. Understanding what a test can tell you is the first step toward deciding whether it fits your needs.

You can ask for an explanation in everyday language and take time to discuss how the information might matter to you.

Screening and diagnosis are different

Screening tests estimate the chance of particular conditions. Depending on the test, they may use a blood sample, ultrasound findings or both. Cell-free DNA screening, often called NIPT, is one blood-screening option.

Diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, can provide more definite answers about the conditions tested. They involve different procedures and risks, which should be discussed before a decision.

Where genetic counseling fits

Genetic counseling helps explain inherited conditions, family history, test options and results. Ask whether a genetics professional would be helpful, particularly if you have a known family condition, a previous affected pregnancy or an unexpected result.

Carrier screening looks for certain inherited changes in a prospective parent. It answers a different question from screening a pregnancy for chromosome conditions.

Questions before a test

  • Which conditions does this test assess, and which does it miss?
  • When can the test be done?
  • What would a higher-chance, lower-chance or unclear result mean?
  • Would another test be needed afterward?
  • How will I receive results, and what costs should I check?

Preparing for the conversation

Bring any family genetic reports or prior pregnancy test results you have. It is fine if your family history is incomplete; explain what you know. Before leaving, ask whom to contact with questions and whether there is a time-sensitive next step.

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Common questions

Is NIPT a diagnosis?

No. Noninvasive prenatal testing, also called cell-free DNA screening, estimates the chance of certain chromosome conditions. A higher-chance result needs follow-up discussion and may lead to diagnostic testing.

Can I decline genetic testing?

Yes. You can choose whether to have screening or diagnostic testing after discussing the benefits, limitations and risks. Ask about timing so you understand the available choices.

Does a lower-chance result guarantee a healthy baby?

No. It reduces the estimated chance of the conditions included in that screen, but it cannot rule out every genetic condition or other health concern.