Understanding prenatal health screenings

Health screenings can provide valuable information about the health of the mom and baby, but they can also raise complex questions and emotions.

Before diving into the various screenings available, it's essential to understand their purpose. Screenings are designed to assess the risk of certain conditions or complications, rather than providing a definitive diagnosis.

Some screenings, such as optional carrier testing, can be done before pregnancy to determine if a couple is at increased risk of having a baby with a specific inherited disorder like cystic fibrosis or sickle cell anemia.

Others, like blood tests and ultrasounds, are performed during pregnancy to evaluate the likelihood of genetic abnormalities or other issues.

• A blood test is one of the most common tests healthcare providers use to monitor your overall health or help diagnose medical conditions.
• An ultrasound is an imaging technique that uses high-frequency sound waves to produce images of structures within your body. During pregnancy, ultrasounds can be helpful to understand how your baby is developing and any potential complications that may affect labor and delivery.

Talk with your healthcare provider to understand which screenings they require and which ones they consider optional. While some screenings are routinely recommended for all pregnant women, others may be suggested based on factors such as your age, health history, or family background.

The first order of screenings is generally noninvasive, but in some cases, invasive testing may be recommended to diagnose genetic conditions.

Common screenings

In the first trimester:

• Non-Invasive Prenatal Testing (NIPT), which is a blood test that helps identify if the baby is at risk for having a genetic condition such as Down syndrome, Edwards syndrome, or Patau syndrome. This test can also tell you the baby’s sex ahead of the 20 week anatomy ultrasound - if you want.
• The Nuchal Translucency Scan (NT), which is an ultrasound that measures the size of the clear space in the tissue at the back of a baby's neck (nuchal translucency) to check for genetic conditions such as Down syndrome.
• Early Anatomy Scan, which is an ultrasound that offers an early glimpse at any significant fetal anomalies for which you might consider specific diagnostic testing.

In the second trimester, common screenings include:

• A Quad Screen, which is a blood test that measures the levels of four markers produced by the baby and the placenta to determine the risk for certain genetic conditions such as Down syndrome and spina bifida.
• Anatomy Scan, which is the most detailed ultrasound you'll have during your pregnancy. It looks at the baby's entire body as well as mom's uterus and ovaries.

During the late second or early third trimester, you'll also be offered a glucose test, which is a way of identifying gestational diabetes. This screening involves drinking a  glucose drink and getting your blood drawn for testing.

What else?

In the US, the Centers for Disease Control recommends that all pregnant women get tested for HIV, hepatitis B virus (HBV), hepatitis C virus (HCV), and syphilis. Toward the end of pregnancy, a group B streptococcus screening is done to identify this bacteria, which can put your baby at risk for infection.

Potential considerations

While prenatal health screenings offer many benefits, it’s important to consider their potential drawbacks. One concern is false-positive results, which suggest a problem when there isn’t one. These can cause unnecessary anxiety and lead to more testing, which may have its own risks. Ask your provider about the limitations of the tests you’re considering so you fully understand what the results may indicate.

Routing prenatal screenings generally pose limited risks, but some follow-up diagnostic tests, like amniocentesis or chorionic villus sampling, come with slight risks, such as discomfort or a small chance of miscarriage. 

Personal, cultural, or religious beliefs may also influence your choice to undergo certain screenings. Some couples may skip screenings based on their beliefs or concerns about handling possible results.

Prepare questions about the risks, benefits, and accuracy of each screening, and share any concerns you have. Your provider can help you make decisions that reflect your values. Finally, check with your insurance company to make sure you understand what - if anything - you might be responsible for paying out of pocket for each screening.

Discussing your options

When considering prenatal health screenings, it's important to create a safe space for open conversation. Share your thoughts and concerns, and reflect on your family histories and any inherited health conditions that may influence your decisions.

Evaluate your comfort level with the screening options available. If you disagree, listen to each other and try to find common ground. Discuss how you would handle potential results and how different outcomes might impact your pregnancy and emotional well-being. 

Talk about how you would respond if a health risk or complication arises, including the possibility of further testing and the uncertainty that may follow. Discuss whether you want to know about potential issues and how you would manage any stress.

Take time to reflect on the information you’ve gathered and the discussions you’ve had with each other and your healthcare provider. It’s okay to step back and process your thoughts and feelings.

What happens if you discover a risk or complication?

If you proceed with a screening and discover health risks or complications, your healthcare provider will explain the situation and outline your options. These may include additional testing, monitoring, lifestyle changes, medications, or medical interventions.

Take time to understand the recommended actions. Don’t hesitate to ask for clarification or seek a second opinion if needed. Gather information from reliable sources to weigh the pros and cons of each option.

Supporting each other emotionally during this time will be crucial. Lean on family and friends, and consider joining a support group or seeking counseling if you feel overwhelmed.

Additional resources:

• Common tests during pregnancy (Johns Hopkins Medicine)
• Prenatal genetic testing (Cleveland Clinic)