What a positive prenatal genetic screening result means

A positive, or high-risk, prenatal screen result means the test found a higher likelihood that a pregnancy may be affected with a certain genetic condition.

What is a positive prenatal screening result?

Prenatal screening tests are designed to estimate the likelihood that a pregnancy may be affected by certain genetic conditions. A positive result (often called “high-risk,” “high-chance,” or “screen positive”) means the test found a higher likelihood the baby may be affected with one of the genetic conditions screened for.

A positive screening result does not mean that a baby is affected. Instead, it is a signal that more information may be helpful, often through diagnostic testing and additional imaging.

Screening vs. Diagnostic testing

Screening and diagnostic tests play different roles in pregnancy care. Understanding that difference can make a positive screening result feel less scary.

Screening tests estimate the likelihood that a pregnancy may be affected with a particular genetic condition. They are designed to identify pregnancies that might benefit from further evaluation.
Diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis analyze fetal cells directly to determine whether a specific condition is actually present.

Most prenatal screening tests, including blood-based genetic screening and ultrasound markers, fall into the “screening” category. A positive screening result provides an opportunity to consider diagnostic testing, but does not provide a final answer.

What a positive result does (and does not) mean

A positive screening result means:

The test identified patterns or markers that are associated with a higher likelihood of a baby being affected with a condition it screens for.
There is reason to consider additional testing or closer follow-up, if desired.

A positive screening result does not mean:

That a baby definitely has the condition.
That a specific outcome or severity can be predicted.

Sometimes, pregnancies with a positive screening result are found to be unaffected when diagnostic testing is performed or at birth. This type of result is called a false-positive and can occur with any prenatal screening test. Other pregnancies will have the condition confirmed through diagnostic testing, and that information can help guide medical care and planning.

Dealing with the uncertainty of a positive result

Screening reports often use words like “high-risk,” “increased-risk,” or “screen positive,” which can sound alarming. It may help to think of these as “higher chance” or “increased chance” for the condition screened. It is also important to consider prenatal screening results in the context of other details.

Details your provider or genetic counselor may review with you include:

How common the condition is overall. Some screened conditions are relatively rare.
The difference in your pregnancy’s risk before and after screening. For example, going from a very low chance to a higher chance may still mean the condition is unlikely overall.
Your age, family history, and ultrasound findings. These can raise or lower concern when viewed alongside the screening result.

Asking your provider to explain the result in plain numbers or simple comparisons can make it easier to understand what “positive” means for you.

Emotional Reactions are Normal

Receiving a screening result that is “positive” or “high-risk” can be difficult, even when the result is not a diagnosis. Many people feel shock, worry, guilt, or find themselves imagining worst-case scenarios.

It may help to:

Take time to understand the result and potential implications on your pregnancy
Bring a partner, family member, or friend to follow-up appointments if that feels supportive
Ask for written information or patient-friendly resources to review later
Request a referral to a genetic counselor who is trained to explain results and support decision-making

An emotional response is normal, and needing time or support is a natural response.

How Do Providers Use a Positive Screening Result?

Clinicians use a positive screening result as a starting point for further evaluation, not as final proof of a condition. Depending on the test and the finding, your provider might:

Review the result with you in more detail and answer initial questions.
Recommend a detailed ultrasound to look for specific physical findings.
Offer diagnostic testing such as CVS or amniocentesis to get more definitive information.
Suggest genetic counseling to help you understand options and potential outcomes.

These next steps are options, not requirements. You can decide which steps feel right based on your values, your tolerance for uncertainty, and what information you feel you need.

When Genetic Counseling May Be Helpful

Genetic counseling may be recommended after a high-risk screening result, an inconclusive result, or when there are questions about testing options. A genetic counselor can review the details of a result, explain the difference between screening and diagnostic testing, and discuss potential outcomes and next steps.

The goal of genetic counseling is to provide clear, accurate information and support individuals in making decisions that align with their values and preferences.

Unity offers access to a team of board-certified genetic counselors who can help individuals understand their options, understand their screening results, and discuss next steps. Appointments can be scheduled through the patient portal, on the Unity website, or by contacting Client Services directly.