Non-Invasive Prenatal Testing: What Parents Need to Know

Pregnancy often comes with a whirlwind of decisions, and one of the first families may face is whether to pursue prenatal testing. These tests can provide valuable information, but they also raise questions, emotions and sometimes even worries—making it essential to cover the topic in your classes.

With medical technology evolving at lightning speed, it can feel challenging to stay current. A prime example is the rise of non-invasive prenatal testing, a rapidly expanding option that is reshaping the way we approach screening. In this article, we will unpack the latest developments, highlight emerging tools still under study and share strategies to help you guide your students through this complex topic with clarity and confidence.

Prenatal Testing Overview

Broadly speaking, prenatal tests refer to any test performed during pregnancy to assess the health of bother mother and her developing baby. These tests help identify potential health concerns, monitor development, and screen for certain genetic abnormalities or birth defects.

Prenatal tests can be divided into two primary categories:

• Screening tests evaluate whether baby has an increased likelihood of having a genetic condition or whether other health conditions may exist for the mother or baby. These tests are usually non-invasive and are done by taking blood or urine samples, or by doing an ultrasound of the baby. Screening results do not provide a diagnosis but can indicate whether further testing is recommended.
  
  
• Diagnostic tests determine whether a baby actually has a specific health condition. These tests are more invasive and carry a small risk of complications. Examples of diagnostic tests include amniocentesis and chorionic villus sampling (CVS).

Both screening and diagnostic tests may be done at different points in pregnancy. Recommendations may vary depending on maternal age, medical history, health, and any issues that come up during pregnancy.

Non-Invasive Prenatal Testing

Non-invasive prenatal testing (NIPT) is a specific screening test that uses a blood sample taken from the mother to assess whether a developing fetus might have a genetic abnormality. The way it works is that a pregnant woman’s blood is drawn and then analyzed in a lab. The blood is examined for small, free-floating DNA fragments.

NIPT is usually done after 10 weeks of pregnancy. Many providers recommend these tests for all patients, whether they are high risk or not, though testing is optional. Some families choose to decline testing, especially if they are at low risk or feel the results would not influence their current pregnancy decisions. Because NIPT is a screening test, results are not diagnostic—false positives and false negatives can occur. A positive result is typically followed by a more invasive diagnostic test for confirmation.

In addition to determining the sex of the fetus, NIPT tests screen for genetic abnormalities, including:

• Trisomy 18
• Trisomy 13
• Down syndrome (Trisomy 21)
• Various disorders impacting sex chromosomes
  

Advances in Non-Invasive Prenatal Testing

A pregnant woman’s blood contains cell-free DNA from both herself and her baby’s placenta. NIPT analyzes this DNA to screen for genetic conditions in the baby. In some cases, a positive result may reflect a genetic change in the mother or the placenta rather than the baby. Because of this, any positive NIPT result is typically confirmed with a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS), to determine whether the baby truly has the condition. Confirmation after birth using a blood sample from the baby is also possible in certain situations.
 
In 2023, researchers from the National Institutes of Health announced a new method of non-invasive prenatal testing, called non-invasive fetal sequencing (NIFS). NIFS is able to separate a mother’s DNA from fetal DNA.
 
More testing needs to be done and NIFS is not yet widely available for pregnant mothers. But the researchers note that this new method could lead to more accurate diagnoses, a wider range of conditions identified, and less reliance on invasive diagnostic measures to verify results.

How to Teach and Discuss Non-Invasive Prenatal Testing with Families

Knowledge is power and arming your clients with solid information about non-invasive prenatal tests and prenatal testing in general is vital.
 
Some of the information can be dry and technical, so using visuals, videos, and other more engaging presentation styles can be helpful. You also want to keep it simple, conveying the information without getting into too many nitty-gritty details.

Distilling the information into “What You Need to Know” tidbits can be helpful—i.e., making the information as practical as possible. As such, you can divide each test or type of test into:

• What the test is and why it’s done
• What you will experience (blood draw, ultrasound, etc.)
• What it looks for
• What other tests may be necessary
  

Perhaps most importantly, you’ll want to discuss how to manage options and discussions with the client’s health care provider. You may want to discuss:

• The pros and cons of non-invasive prenatal testing
• What happens if the screening tests is positive and diagnostic tests are needed
• Questions to ask your provider
  

Prenatal testing, including non-invasive prenatal testing, can be stressful for families. So above all else, you want to express empathy about their questions, concerns, and hesitations. You want to create an atmosphere in class that is informative, without being biased, and that empowers your clients to ask questions, advocate for themselves, and make choices that work best for themselves and their families.

Explore More Healthy Pregnancy Resources

Looking for more guidance to support a healthy pregnancy? Explore our Healthy Pregnancy collection for trusted, easy-to-understand materials that help you educate and support parents to make informed decisions. Find handouts, guides, and teaching tools on nutrition, prenatal care, emotional well-being, and more—all designed to empower families and support educators.

Wendy Wisner, Freelance Writer and Lactation Consultant (IBCLC)

Sources

NIPT Test. Cleveland Clinic. 2022.
Prenatal Genetic Screening Tests. American College of Obstetricians and Gynecologists. 2023.
Science Update: New method could replace conventional invasive procedures for prenatal testing, NIH-funded study suggests. National Institutes of Health. 2022.
Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Genetic Alliance. 2008.

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