Prenatal genetic screening is testing used during pregnancy to estimate the likelihood that a baby may be affected with certain genetic conditions or other health concerns. These can include screening through blood tests or ultrasound measurements. They are usually offered in the first and second trimester, but the exact timing depends on the type of screening and your pregnancy care plan.
What happens after prenatal screening depends on your results, your medical history, and your own values and preferences. Your provider will use the results to determine next steps in care. For some people, that is simply continuing routine prenatal care. For others, it may involve more detailed imaging, diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis, or a visit with a genetic counselor.
Understanding prenatal screening results
Low-Risk result
A low‑risk result means the likelihood that your baby has the conditions included in the screening is low, but not zero. This is sometimes called a “screen negative” or “low‑chance” result. It is reassuring but does not completely rule out all genetic conditions or birth differences. Screening cannot look for every possible condition, and rare conditions may still occur even when screening is low risk.
In most pregnancies, a low‑risk result means no additional genetic testing is recommended based on screening alone. Your care team will usually suggest continuing with routine prenatal visits and standard ultrasounds, unless there are other concerns such as family history or unusual ultrasound findings.
High-Risk result
A high‑risk result means the test found a higher likelihood for a specific condition compared to the general population risk. This is sometimes called a “screen positive” or “high‑chance” result. It does not mean the baby definitely has the condition.
After a high‑risk result, your provider will speak with you and may offer a referral to a genetic counselor or maternal‑fetal medicine (MFM) specialist. Together, you can discuss what the result means, review the likelihood that the finding is truly present, and talk through options such as targeted ultrasound, CVS, or amniocentesis for diagnostic answers.
Inconclusive or “No-Call” result
Sometimes the lab is not able to provide a clear result. This may be reported as “no‑call,” “test failure,” “indeterminate,” or “inconclusive.” In prenatal testing, this can happen if there is not enough fetal DNA in the sample, if the sample is collected very early in pregnancy, or for other technical reasons.
An inconclusive result does not mean something is wrong, but it can be associated with a higher likelihood of certain chromosomal conditions. Your provider may recommend repeating the test, having a detailed ultrasound, or considering diagnostic testing. A visit with a genetic counselor can be helpful to understand these choices and think through what feels right for you.
What happens after a Low-Risk result?
For most people, a low‑risk result means you continue routine pregnancy care. This usually includes:
- Regular prenatal visits with your provider
- Standard ultrasounds, including a mid‑pregnancy anatomy ultrasound
- Additional testing if new concerns arise, such as an ultrasound finding or a change in your health
Your provider may still review your family history and any previous pregnancies to see if other testing should be considered for reasons unrelated to the screening result. Even with a low‑risk result, you can ask questions or request a referral to a genetic counselor if you would like more information about your screening or your family history.
What happens after a High-Risk result?
After a high‑risk result, the focus becomes understanding diagnostic testing options and deciding whether you want more information. Typical next steps often include:
- A detailed review of the screening report with your provider.
- Referral to a genetic counselor to explain the specific condition, what the numbers on the screening report mean, and how testing works.
- A targeted ultrasound to look for signs related to the condition for which the pregnancy screened high-risk.
- Discussion of diagnostic testing, such as CVS (usually offered in the late first trimester) or amniocentesis (usually offered in the second trimester).
Diagnostic tests analyze fetal cells directly and can usually diagnose or rule out the specific condition with much greater accuracy than a screening test. These procedures also have their own risks and limitations, so the decision to proceed is personal.
Some people choose diagnostic testing to have a clear answer, while others prefer to rely on ultrasound and screening results. Your care team should support your decisions either way.
What happens after an Inconclusive result?
If your result is inconclusive or “no‑call,” your provider will explain the possible reasons and what this may mean for your pregnancy. For some screening tests, a no‑call result can sometimes be linked to a slightly higher likelihood of chromosomal conditions.
Common options after an inconclusive result include:
- Repeating the screening test, if appropriate
- Choosing a different type of screening test
- Having a detailed ultrasound to look for structural differences
- Considering diagnostic testing, especially if you prefer a more definitive answer or have other risk factors
A genetic counselor can help you weigh these options and consider how each choice fits with your values and comfort with uncertainty.
How prenatal screening fits into your overall care
Prenatal screening results are just one piece of the picture. Your provider will also look at your:
- Personal and family medical history
- Age and other health conditions
- Ultrasound findings
- Results of any other blood tests or prior pregnancies
All of this information is combined to create a care plan that fits your situation. For example, someone with a low‑risk screening result but a strong family history of a specific inherited condition may still be offered additional testing, while another person with a high‑risk result may choose not to pursue invasive diagnostic procedures.
You have the right to accept or decline any screening or diagnostic test. Your care team should present options and answer your questions in a clear way so you can make informed decisions.
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.
