Pregnancy comes with many decisions, including whether to explore genetic screening or testing. These options provide insight into the fetus’s health, helping you make informed choices about prenatal care. Some seek screening for peace of mind, others due to family history. Many simply want a clearer understanding of potential health risks.

Genetic screening vs. genetic testing: what’s the difference?

Screening assesses the likelihood of certain conditions but does not provide a diagnosis. Testing offers a definitive diagnosis.

  • Genetic screening: Non-invasive tests that estimate the chance of certain genetic conditions. It’s offered (not required) for all pregnancies. Because it only measures risk, false positives and false negatives are possible.
  • Genetic testing: A diagnostic test that provides a clear yes-or-no answer about specific genetic conditions. Tests like chorionic villus sampling (CVS) or amniocentesis are highly accurate (99.9%) but carry a small risk of pregnancy loss. These are typically recommended when screening results indicate a higher risk or when there is a known family history.

WHA offers Non-Invasive Prenatal Testing (NIPT), carrier screening and genetic counseling as part of our routine prenatal care. For those needing more specific testing, genetic counseling can help determine the best next steps.

Genetic counseling: expert support for pregnancy decisions

Genetic counseling at WHA helps you understand your options and make informed choices. All screenings and testing are optional, and our certified genetic counselors provide information without pressure so you can decide what’s best for you.

  • Assessing family history and risk factors: A genetic counselor will review your medical history to identify inherited conditions. Risks increase with maternal age and family history. This may also be done during preconception planning.
  • Discussing screening and testing options: Counselors explain available tests, what they detect and their limitations. Screening is a helpful first step but isn’t conclusive.
  • Navigating abnormal results: If a screening result is high-risk, a genetic counselor explains what it means, discusses diagnostic testing options and connects you with resources if needed.
Cost and accessibility

Routine screening is often covered by insurance according to your benefits, and further testing is typically covered if medically indicated (again, according to the terms of your specific plan). WHA offers financial coordinators if you need guidance on how to research your coverage.

When to consider genetic screening or testing

Screening and testing are available to all patients but are always optional. Some people pursue them routinely, while others do so based on personal circumstances.

For those with rare conditions in their family, you may also opt for expanded carrier screening, which tests for hundreds of recessive conditions.

What genetic screening and testing can detect

Genetic screening and testing can help identify chromosomal abnormalities and inherited conditions.

Common screening options:
  • NIPT: A newer, non-invasive type of aneuploidy screening that uses a maternal blood test at around 11 weeks’ gestation to analyze fetal DNA for chromosomal conditions like Down syndrome (trisomy 21), trisomy 13 or trisomy 18. Results are highly accurate, but not diagnostic.
  • Carrier screening: A blood or saliva test that checks if you or your partner carry genetic conditions like cystic fibrosis or spinal muscular atrophy. These conditions are inherited only if both parents are carriers. Carrier screening can be done at any time–even before pregnancy–and does not need to be repeated for the same parent or genetic donor.
  • Other aneuploidy screening: Sequential screening or quad screening may be options if NIPT isn’t covered by your insurance plan or in certain other circumstances known to impact the accuracy of NIPT.

Because screenings are not definitive, abnormal results should always be discussed with your obstetric care provider or a genetic counselor before assuming a diagnosis.

Genetic testing for high-risk pregnancies:

Amniocentesis or CVS is chosen when parents want a definitive diagnosis — often because screening showed a higher risk, there’s a family history of genetic conditions, an ultrasound finding, or other pregnancy risk factors.

  • Amniocentesis: A diagnostic test that collects amniotic fluid to detect genetic conditions with 99.9% accuracy, but it carries a small risk of pregnancy loss (about 0.1%). Amniocentesis is typically done between 16–22 weeks (second trimester).
  • Chorionic Villus Sampling (CVS): A test performed between 11–13 weeks (first trimester) that examines placental tissue for chromosomal abnormalities. Like amniocentesis, CVS carries a small risk of pregnancy loss (up to 1%).

Understanding the emotional and ethical considerations

Before opting for genetic screening or testing, it’s important to consider what the results could mean. Some people pursue screening simply to find out their baby’s sex sooner (which is one exciting part of the 20-week ultrasound), not realizing it may reveal unexpected medical information.

This is why screening results and diagnostic testing can lead to difficult decisions. A screening may suggest a higher risk, but the small risk of pregnancy loss with diagnostic testing can make the choice more complex. If testing confirms a condition, some may require little intervention, while others may involve specialized medical care at birth or beyond.

Your provider and genetic counselor will explain the condition, discuss options available for ongoing care or pregnancy termination and connect you with specialists, if needed. If a condition requires immediate care at birth, delivery planning may include additional ultrasounds or arranging for a NICU-equipped hospital.

No matter what you decide, every pregnancy is unique. There is no right or wrong choice, only what’s right for you.