Your pregnancy journey starts with a positive pregnancy test. That is the first of many tests offered throughout your prenatal care. Some tests diagnose conditions you may have during pregnancy, and others look for genetic abnormalities in your baby. Results from some tests may even impact your birth. Tests are valuable tools but can also create anxiety and stress during pregnancy. This article is a guide to your prenatal testing options with tips to understand and navigate tests for you and your baby during pregnancy.

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Test Anxiety 

There are a lot of tests available to you when you are expecting, and it is easy to feel like you are continually waiting for results to let you know your baby is healthy. The more you know, the less anxious you will be. Confusing tests and complex results can be overwhelming, contributing to anxiety. If you have any questions about a test or are nervous about the results, bring them up with your doctor or midwife. Hopefully, they can answer your questions and help put your mind at ease.

Remember that the highest probability is that your baby is healthy. Worrying isn’t going to do you or your baby any good. Easier said than done, I know. What you can do is learn about what the different testing options are and make informed decisions. Getting educated will give you confidence in your choices of the tests you opt for and confidence to understand the results. 

Screening Test vs. Diagnostic Test 

It is crucial to understand the difference between screening and diagnostic tests. A screening test gives you the likelihood of a condition. You would need a diagnostic test to diagnose anything. For example, a screening test, like the cell-free DNA test, combines the results from the blood test with other factors, including your age, ethnicity, and family health history. The results of this screening test estimate the chances of your baby having an abnormality. A screening test does not diagnose a condition; it only signals that further testing is needed. It can be devastating to get screening results back, showing your baby is at a higher risk for anything. Please understand that you don’t know anything for sure until you undergo a diagnostic test.

Noninvasive vs. Invasive Tests 

You can further classify tests as noninvasive or invasive. Noninvasive tests are those that do not have a risk for you or your baby. These typically use a urine or blood sample from you. If you are anxious about needles, you may not consider a test drawing your blood noninvasive. If blood draws make you uneasy, let your doctor or midwife know. You can ask for someone with a lot of experience taking blood so you do not have a first-day intern sticking you with a needle. Noninvasive tests include urine samples, gestational diabetes tests, and cell-free DNA tests.

Invasive tests come with some risks to you or your baby. An example of an invasive test is amniocentesis, which involves inserting a needle into your belly to take a sample of amniotic fluid. The majority of screening tests are noninvasive. If a noninvasive screening test indicates your baby is at high risk for a condition, your care provider may offer you an invasive diagnostic test. The invasive tests include a CVS, amniocentesis, and cordocentesis. These tests are typically not given without a screening test first. 


No test is always 100% accurate. The rate of inaccurate results, known as false-negative or false-positive, varies from test to test. Standard terms with testing accuracy are sensitivity, specificity, and positive predictive value. Sensitivity is the actual positive rate; how often will the test be positive if a person has the disease? Specificity is a true negative; how often will the test be negative if a person does not have the disease? Predictive value is the probability that the patient has the condition if they test positive. 

Overview of Prenatal Tests 

Many tests may be available to you during your prenatal care. Although we can review each of these tests individually, your care provider is looking at your entire medical record and considering many factors, including vital signs, your health, medical and family history, age, race, etc. Here is a brief overview of each test. Many of these tests have a separate episode that dives into the evidence and more information.

Urine Test

Your care provider can gather a lot of data about your health from a urine sample. The hormone hCG (human chorionic gonadotropin) in your urine gives you a positive pregnancy test. The American College of Obstetricians and Gynecologists guidelines call for a baseline urine test, likely at your first appointment. Subsequent urine tests will be up to the discretion of your care provider. Urine analysis or culture looks for glucose, proteins, ketones, and bacteria. Your doctor interprets the results to detect risks for infections of your urinary tract or kidneys, gestational diabetes, dehydration, and preeclampsia. Your care provider adds these results to your medical record for comparison to future test results. Some of these conditions require additional tests or other readings, like blood pressure, to diagnose.

Blood Test

Another routine test is a blood test. At your first appointment, a medical professional will draw blood from a vein in your arm and send the sample to a laboratory for analysis. You may need additional blood tests to monitor potential complications, such as anemia or diagnosis of possible infections. Your blood can provide a wealth of information about your health.

Blood type and Rh factor: Your blood type (A, B, AB, O) has no bearing on your pregnancy but is essential if you need a blood transfusion. In addition to your blood type, you either Rh positive or negative. If you are Rh-negative, and the baby’s father is Rh-positive, your baby may be Rh-positive. To avoid potential complications, Rho(D) immune globulin, commonly referred to by the brand name RhoGAM, is given at various points during your pregnancy or after birth. If the baby’s father is also Rh-negative, you may be able to avoid RhoGAM entirely. To learn about the risks, benefits, and considerations surrounding Rh compatibility with your baby and the RhoGAM shot, check out this episode.

Glucose (or sugar) levels measure your body’s ability to metabolize sugar and will show whether you are at risk for gestational diabetes. Iron levels indicate if you are anemic or have iron deficiencies in your blood. The level of hemoglobin indicates the oxygen-carrying power of your red blood cells. Antibodies for rubella (also commonly known as the German Measles) indicate whether or not you are immune.

A blood test can diagnose a toxoplasmosis infection. Toxoplasmosis is a parasite that is harmless to you but can cross the placenta and affect your baby. This is a parasite you can pick up from cat feces, which is why you should ask someone to clean out your cat’s litter box while pregnant.

Blood tests can also diagnose genetic diseases such as familial hypercholesterolemia, cystic fibrosis, or sickle-cell anemia. Plus, sexually transmitted diseases like HIV, hepatitis B, syphilis, and chlamydial infection.

Tuberculosis Test

Depending on your care provider and the risk of tuberculosis, you may have a TB test at some point during your prenatal care. Tuberculosis is an infectious bacterial disease diagnosed with a blood or skin test. The skin test involves injecting a tiny amount (0.1ml) of a protein into the skin on your arm. This produces a small pale bump on your skin. You return 48-72 hours later, and your care provider will examine your arm for reaction signs. A blood test is more accurate than a skin test.


An ultrasound exam is a procedure that uses high-frequency sound waves to create a picture, called a sonogram, of your baby and placenta. Some of the other tests we will review in this article utilize ultrasound.

Ultrasounds can take place at any point during pregnancy. Unlike many tests where you have to wait for results, you see the results on a monitor during the procedure. An early ultrasound is usually done with a transvaginal scan in the first trimester and accomplishes two things. First, it confirms that you are pregnant. Second, it dates your pregnancy. Your care provider will use it to verify a heartbeat, measure the crown-rump length, confirm molar or ectopic pregnancies, and assess abnormal gestation.

The American College of Obstetricians and Gynecologists recommends that expecting mothers have at least one standard exam during their pregnancy, usually at 18–22 weeks. From your practitioner’s point of view, this is a great way to see how a baby is developing and offer reassurance that everything is developing exactly the way it should be. This is the second-trimester anatomy scan. This ultrasound examination diagnoses fetal malformation and structural abnormalities, confirms a multiples (twins) pregnancy, verifies dates and growth, confirms a miscarriage, identifies excessive or reduced levels of amniotic fluid, and overall evaluates your baby’s well-being. During this ultrasound appointment, the ultrasound technician will take various measurements of your baby. Since this is an anatomy scan, the ultrasound technician will look specifically at the heart’s four chambers: the kidneys, bladder, stomach, brain, spine, and sex organs.

This scan is exciting because most people can find out the sex of their baby. If you want your baby’s sex to be a surprise, tell the ultrasound technician upfront. With about 95% accuracy, the technician should see whether you are having a boy or a girl. You might want to ask them how certain they are, and of course, the only way to be 100% sure is to wait until the birth.

For more in-depth information on ultrasounds, see this episode.

Gestational Diabetes Testing

When you eat, your body breaks down foods into glucose and uses it for energy. Your pancreas produces the hormone insulin to help muscles, fat, and other cells absorb glucose for fuel. During pregnancy, your body naturally becomes more resistant to insulin. This means you absorb less glucose, and a higher amount remains in your blood. For most moms, this works just like it is supposed to. Even though your body is more resistant to insulin and higher glucose levels are in your blood, your pancreas reacts by producing more insulin, which is what it is supposed to do. The problem occurs when your pancreas can’t keep up with the high demand for additional insulin, and more glucose builds up in your blood. Your doctor or midwife will test for gestational diabetes because of the associated risks. Gestational diabetes insulin resistance often starts around week 20

Glucose Challenge Screening

The glucose challenge screening is a preliminary screening test to evaluate how your body processes sugar. This screening test is a standard routine test between 24-28 weeks. If you are considered high-risk, you will likely test early in your pregnancy, and even if you test negative, you may test again in the third trimester. Some practitioners argue women at low risk for gestational diabetes should not be required to be routinely tested, although that would mean around 4% of cases could go undiagnosed.

During the test, you are asked to drink a sweet glucose liquid within 5 minutes and then have blood drawn one hour after having the drink. A high glucose level in your blood may indicate your body is not processing sugar effectively.

The “normal” blood sugar level threshold is 130 or 140 milligrams per deciliter or lower, which may vary between providers. Like any screening test, it isn’t perfect, and the sensitivity of this test is 74%. This means a positive result correctly identifies 74% of women with gestational diabetes. It has a specificity of 77%, which means 33% of women without gestational diabetes will get a positive result. If the results of this screen are positive, you may have the glucose tolerance test to diagnose whether you have gestational diabetes.

Some alternatives to the glucose challenge screening include eating jelly beans instead of drinking the glucose drink or blood monitoring at home. If you want to explore some different options for gestational diabetes testing, see this episode.

Glucose Tolerance Test

A glucose tolerance test can diagnose gestational diabetes. Before taking the glucose tolerance test, your doctor will ask you to ensure you eat at least 150mg of carbohydrates for three days. 150 mg of carbs is about what you will get from a slice or two of bread. You should not eat or drink anything but sips of water for 14 hours before the test. For this reason, it is best to schedule the test for first thing in the morning. A technician will draw blood to measure your baseline fasting blood glucose level. You will drink a glucose solution (75 or 100 g), and your blood will be drawn and tested every hour for the next three hours.

This test is more accurate than the screening test. If only one of your readings returns abnormal, your doctor may suggest changes to your diet and test you again later in the pregnancy. If two or more of your readings come back abnormal, you will be diagnosed with gestational diabetes, and your doctor or midwife will talk to you about a treatment plan. About one-third of women who exceed the limit on the screening test are diagnosed with gestational diabetes on the second test. 

For more information on gestational diabetes, see this episode.

Group B Strep

Group B strep (GBS) is short for group B streptococcus, a bacterial infection. This bacterium naturally lives in the gastrointestinal tract and is present in the vagina or the rectum. According to the American College of Obstetricians and Gynecologists, the prevalence in pregnant women is between 10% and 30%. GBS is higher in black women and may vary by geographic location. Colonization with this bacteria is not permanent, and it can come and go. Most women with group B strep do not experience any symptoms; this is usually not a big deal. It can become an issue when pregnant and cause bladder and uterine infections in rare cases. It can cause meningitis, sepsis, pneumonia, or stillbirth in severe cases.

In the United States, care providers routinely test pregnant women for GBS between weeks 36 and 38. You need to wait until week 36 because your care provider wants to know if you are colonized during labor and when you could pass it to your baby. This is a noninvasive test; your care provider will take a swab of your vagina and rectum. Then, the sample is sent to a lab, and results should be available within 24 to 48 hours.

See this episode for more information on group B strep, including possible prevention.

Fetal Non-Stress Test (NST)

The fetal non-stress test is named “non-stress” because no stress is placed on the baby during the test. This involves attaching one belt to the mother’s abdomen to measure fetal heart rate and another to measure contractions. Your care provider monitors movement, heart rate, and heart rate reactivity to movement for 20-30 minutes. A non-stress test may be performed after 28 weeks if you feel like your baby is not moving as frequently as usual if you are past your due date, if there is any reason to suspect the placenta is not functioning adequately, or if you are high risk.

This test can indicate fetal distress or if the baby is not receiving enough oxygen because of placental or umbilical cord problems. The concept behind a non-stress test is that a baby needs adequate oxygen for activity and heart rate to be within normal ranges. When oxygen levels are low, a baby may not respond normally. A reactive result indicates adequate blood flow and oxygen to the fetus. A non-reactive result requires additional testing to determine whether the effect is due to poor oxygenation or other reasons. If the baby does not react, it does not necessarily indicate a problem. Non-reactivity could result from sleep patterns or particular prescription or nonprescription drugs. 

Biophysical Profile

The biophysical profilecombines an ultrasound evaluation with a non-stress test. This test is helpful if there is a question about fetal health and well-being resulting from either an examination, symptoms, or if the pregnancy is considered high risk. A biophysical profile can help determine fetal health during the third trimester, after 32 weeks.

A qualified ultrasound technician conducts the ultrasound portion of the test, and a perinatologist oversees the test. The ultrasound may take up to an hour, and the technician will watch for various signs that are important in measuring your baby’s health. The five attributes scored during this test are breathing, movement, muscle tone, heart rate, and amniotic fluid.

Genetic Screening

Many tests can inform you about your baby’s risk of genetic disorders. Aneuploidy is when there are missing or extra chromosomes. This includes trisomy when there is an extra chromosome, and monosomy, when a chromosome is missing. Some tests can also assess the risk for genetic disorders like sickle cell disease or cystic fibrosis. The American College of Obstetricians and Gynecologists states that aneuploidy screening or diagnostic testing should be discussed and offered to all women early in pregnancy, ideally in the first prenatal visit.

First Trimester Screen

The first-trimester screen is a noninvasive evaluation that combines a blood test for the mom with an ultrasound evaluation of the baby. This test is between 10 and 13 weeks, six days, and can identify risk for specific chromosomal abnormalities, including Trisomy-21 and Trisomy-18. Trisomy 21 is Down syndrome.

The ultrasound portion of the test looks at the nuchal translucency. This fluid collects at the back of the baby’s neck. All babies have some fluid at the back of their neck. But, many babies with Down’s syndrome have an increased amount.

A study published in the New England Journal of Medicine states the combined accuracy rate for the screen to detect chromosomal abnormalities is approximately 85%, with a false positive rate of 5%. That means out of every 100 babies affected by the abnormalities the screen tests for, it will identify around 85. Approximately 5% of all normal pregnancies will receive a positive or abnormal level. It is crucial to remember that a positive result does not equate to having an abnormality. It indicates that you may want to discuss further testing with your care provider.

Second Trimester Screening

The quad screen is a maternal blood screening test examining four specific substances: AFP, hCG, Estriol, and inhibin A. These proteins or hormones can indicate your baby’s risk of trisomy 21, trisomy 18, spina bifida, and abdominal wall defects. The optimal time frame for this test is between 16 and 18 weeks, but the window is between 15 and 22 weeks. The quad screen test is slightly less accurate than the first-trimester screen.

Integrated Screening

An integrated screening combines both first and second-trimester screenings. Results are only available after the second-trimester test between 15 and 22 weeks. This test has a higher detection rate for Down syndrome than either of the two tests alone.

Cell-Free DNA & NIPT

Historically, the most common noninvasive screening tests for chromosome abnormalities in your baby are the first-trimester screen and quad screen. With better technology comes more options for testing, especially when examining DNA. The cell-free DNA test looks for fragments of your baby’s DNA that freely float in your bloodstream. This simple blood test can test for many more chromosome abnormalities than the traditional screen tests, plus the sex of your baby and their Rh factor.

Your care provider may offer a cell-free DNA test if you are at a higher risk of having a baby with a chromosomal abnormality. The criteria for this from the Society for Maternal Fetal Medicine is that you are over the age of 35 at the time of your baby’s birth, a sonographic finding indicating a risk for aneuploidy, history of a prior pregnancy with a trisomy, if another screening test found you were at a higher risk, or if you or your partner have something called Robertsonian translocation with an increased risk for trisomy 18 or 13

You can take a cell-free DNA test as early as ten weeks. Results from the test are available within two weeks. Results reported may vary based on the lab performing the test. Some labs report positive or negative, high or low risk, or probability. There are some instances in which this test may not be as accurate, such as if you are overweight or obese. If you are expecting twins, this test is not as accurate. It is not available if you are pregnant with triplets or more. The accuracyof this screening test varies.

A systematic review and meta-analysis examined 102 studies on the accuracy of cell-free DNA for trisomies 21, 18, and 13. The sensitivity for trisomy 21 was 99.3%; for trisomy 18, the sensitivity was 97.4%; and for Trisomy 13, the sensitivity was 97.4%. The study authors did estimate test accuracy in a hypothetical population, and these numbers may be a bit easier to understand. In a high-risk population, meaning these are women at a higher risk of having a baby with a trisomy, of 10,000 pregnancies, 324 cases of Down syndrome would be detected, with nine missed and 31 false-positive results. These numbers change significantly in a low-risk population because the positive predictive value is lower. They estimated that in a hypothetical low-risk population of 100,000 pregnancies, we would expect 417 cases of Down syndrome detected, with 94 false-positive results.

Positive predictive value is the likelihood that someone with a positive test has a baby affected. Positive predictive value is lower if your risk is lower. For this reason, the Society for Maternal Fetal Medicine does not recommend this test for low-risk women. This is the same view adopted by the American College of Obstetricians and Gynecologists.

The New York Times found these tests perform much worse when looking for less common conditions caused by missing pieces of chromosomes called microdeletions. To evaluate the newer tests, The Times interviewed researchers and combined data from multiple studies to produce the best estimates of how well the five most common microdeletion tests perform. The analysis showed that positive results on those tests are incorrect about 85% of the time. Keep this in mind and get clear with your doctor, midwife, or genetic counselor to ensure you understand the results and the accuracy of the test for any condition that comes up positive.

See this episode for more in-depth information on the cell-free DNA or NIPT test.

DNA and Carrier Screening Tests  

If you or your partner have a family history of any genetic disease, you can get tested to determine if you carry the gene and how likely you will pass the condition to your baby. One example of this is cystic fibrosis carrier screening. This involves a DNA test from you to look for specific genes. As science continues to improve in genetics, we will likely see more emphasis on this.

Invasive Prenatal Tests

Tests that are considered invasive are those that do pose a risk to you or your baby. This includes chorionic villus sampling (CVS), amniocentesis, and cordocentesis. All these involve inserting a needle into your belly to collect a sample analyzed in a laboratory. These tests can diagnose chromosome abnormalities in your baby, like Trisomy 21 (Down syndrome), genetic disorders like cystic fibrosis, and neural tube defects like spina bifida. Invasive tests follow a positive screening test or if genetic conditions run in your family.

Chorionic Villus Sampling (CVS)

A chorionic villus sampling test determines if a baby has chromosome abnormalities like Down syndrome and genetic disorders like cystic fibrosis. The window for a CVS is short, and you can get this test between 10 to 13 weeks. A CVS involves removing some chorionic villi cells from the placenta at the point where it attaches to the uterine wall.

There are two ways samples are collected. The most common method is transcervical, where an ultrasound guides a thin catheter through the cervix to your placenta, and the chorionic villi cells are gently suctioned into the catheter. This method is not ideal for women with uterine fibroids or a tilted uterus. If this is the case, your care provider will probably recommend another transabdominal approach where an ultrasound guides a long, thin needle through the abdomen to your placenta. The extraction of cells takes only a few minutes from start to finish. The procedure takes about a half-hour; results should be available in five to seven days. The level of accuracy is high, at 98-99%, but this test does not measure the severity of these disorders.

Miscarriage is the primary risk related to CVS. A systematic review and meta-analysis found the miscarriage rate to be 0.22%. This is the data also referenced by ACOG. There are other possible side effects for the mother following the procedure, including spotting, cramping, and pain at the puncture point. Contact your care provider immediately if you have a CVS and experience fever, chills, or leaking amniotic fluid. 


The primary reason for amniocentesis is to detect chromosome abnormalities, neural tube defects, and genetic disorders. The test usually is done between 15 and 20 weeks. A needle is inserted through your belly into the amniotic sac to collect a sample of amniotic fluid. This is used in combination with an ultrasound to guide the needle. The actual collection of fluid takes less than five minutes, but the procedure takes about 45 minutes from start to finish. A lab analyzes the amniotic fluid containing cells shed by the fetus. Results can take a few days to a couple of weeks.

Like a CVS, amniocentesis has a high level of accuracy at greater than 99%. Amniocentesis is an invasive diagnostic test that does pose potential risks. A systematic review and meta-analysis found the miscarriage rate to be 0.11%. This is the data also referenced by ACOG. The mother may experience sharp pain when the needle enters the skin and again when it enters the uterus. After an amnio, you could experience some side effects, including cramping, leaking fluid, and minor irritation around the puncture site.

Your care provider may recommend an amniocentesis later in the third trimester to assess uterine infections, determine the severity of fetal anemia in babies with Rh disease, or evaluate lung maturity before birth.


Cordocentesis, also called Percutaneous Umbilical Cord Blood Sampling, is a diagnostic test that examines blood from the fetus to detect fetal abnormalities. A cordocentesis is usually done after 17 weeks when an amniocentesis or CVS is not an option or if the results of these tests are inconclusive. This test detects chromosome abnormalities and blood disorders. It can also help diagnose malformations of the fetus, a fetal infection like toxoplasmosis or rubella, the fetal platelet count in the mother, fetal anemia, or isoimmunization, which is a condition when the mother’s blood is incompatible with the baby’s. Similar to a CVS, this test also differs from an amniocentesis because it does not allow testing for neural tube defects. 

A cordocentesis uses an ultrasound to determine where the umbilical cord inserts into the placenta. The ultrasound guides a thin needle to the umbilical cord through the abdomen and uterine walls. The needle is inserted into the umbilical cord to retrieve a small fetal blood sample. The procedure is relatively quick, and results are usually available from a laboratory within 72 hours.

Miscarriage is the primary risk related to cordocentesis, occurring in 1.3% of procedures. This is higher than the risk of miscarriage from a CVS or amniocentesis. Other potential side effects include blood loss from the puncture site, infection, a drop in fetal heart rate, and premature rupture of membranes.

Minimizing Your Risk with an Invasive Test

Miscarriages can occur after one of these invasive tests due to uterine infection, water breaking, or premature labor. It is extremely rare, but the needle can come in contact with the baby. The professional performing the procedure takes precautions to avoid this by using an ultrasound to guide the needle away from the baby.

The risk of miscarriage in these invasive procedures has decreased over the years. Several studies show the number of CVS or amnio procedures a department performed significantly affected the risk of miscarriage.

ACOG acknowledges that there is also a significant learning curve associated with the safe performance of these tests and that procedure-related loss rates may be different among healthcare providers with less cumulative experience. If you are having an invasive test done, it would be worth looking into the facility your care provider refers you to and even exploring any other options available. You can ask questions like how long they have been doing these tests, how often they do them, and what the miscarriage rate is for a particular doctor or center.

Paternity Testing

As a side note, a CVS and an amnio also provide access to DNA for paternity testing before delivery. DNA is collected from the potential father and compared to DNA obtained from the baby. The results are accurate (99%) for determining paternity. Another option, the Noninvasive Prenatal Paternity test, is the most accurate and noninvasive way to establish paternity before the baby is born. This test only requires a simple blood collection from the mother and the father and can be performed after the 8th week of pregnancy. The test is 99.9% accurate.

Know Your Testing Options 

Know what your options are for testing. Your testing options may be limited by the tests accessible to your doctor or midwife. Testing options will depend on your country or state and the agreements between the testing companies and your doctor’s office. If you want a test not typically offered by your care provider, you may be able to have them request it or take the test through a third-party laboratory.

For a gestational diabetes screening test, you may have the option to monitor your blood glucose levels at home rather than take the one-hour test in your doctor or midwife’s office. If you do not know your options, you do not have any. You can always ask if there is an alternative. 

Informed Consent 

Any test should always come with informed consent. You always have the option to opt out of a test. Proper informed consent means that your doctor or midwife has explained it to you, answered any questions, and given you all your options. The choice to take the test is ultimately up to you. 

Plan so You Can Get Informed 

Many expecting mothers enter a prenatal appointment to learn they are taking one of many tests that day. If you have a heads up that you will have the option to do a first-trimester screen test at your next appointment, you can get informed and be prepared. The alternative is that you are put on the spot to opt into a test. It is much easier to make informed decisions when you are not pressured and have the time and the space to explore your options and think through what is best for you and your baby.

A fantastic way to stay ahead of what tests or other procedures could be coming up during prenatal care is to listen to the 40 Weeks podcast. This has a short episode for each week of your pregnancy so you can learn how your baby is growing, what is going on in your body, what to expect at your upcoming prenatal appointments, and a tip for dads and partners. Each episode is about six minutes long, and 40 Weeks is available anywhere you listen to audio or on the Pregnancy Podcast website. You can also sign up with your email address and due date and get each week delivered at the perfect time to your inbox.

Costs and Insurance Coverage 

Just because your care provider offers a test does not necessarily mean your health insurance will cover it. If the test is not covered, make sure you know the cost. Your health insurance will likely cover a cell-free DNA test if you are over 35. If you are under 35, insurance may not pay for it. You can always request a specific test, but it does not mean health insurance will cover it. Ask your doctor or midwife if you have questions about whether your insurance covers a test. Better yet, verify with your insurance company.

Assessing How the Results Will Alter Your Prenatal Care 

A consideration when evaluating whether to take a test is determining how it will alter your prenatal care. Some expecting parents will use test results to decide whether they want to continue the pregnancy. Some people who wouldn’t consider that to be an option may want to know about any abnormalities ahead of time so that they can plan for their baby’s care in advance. Knowing the results from some tests may allow you to pursue potential interventions, like a fetal surgery for spina bifida. If a parent knows their child will be born with a disability, they can plan for a child with special needs, address anticipated lifestyle changes, and find support groups and resources.

On the other hand, there are many reasons why some couples would choose not to pursue testing or additional invasive testing if they are comfortable with the results, no matter the outcome. Some parents may decide not to participate in any testing that has a risk if they would never consider terminating a pregnancy. Part of evaluating whether to opt into a test is weighing the risks and benefits. If you do not see any use in the results, you could decide an invasive test is not worth the risk. 

Interpreting Results 

Ask your doctor or midwife when results will be available and how you will get them. Your care provider may not notify you of normal results. In many cases, your doctor or midwife will only contact you if the test has an abnormal result. Ensure you understand the results and what they mean for you or your baby. Some tests will give you a positive or negative; others will assign a range or risk factor. Trying to interpret results from a lab printout without your doctor can be challenging. If you are confused about a test, please ask your care provider to explain it. 

Including Your Partner in Decision-Making 

Your partner can be a big help in navigating prenatal tests. Ultimately, decisions of what tests to take are yours. You can and should consider your partner’s input, especially as it relates to your baby. Your partner can be a sounding board to discuss any questions or concerns. They can also advocate for you and help speak up with questions or concerns during a prenatal appointment.

If your partner cannot be with you for in-person appointments, you can always get them on the phone or a video call. It isn’t quite the same as having them next to you. Even having them there virtually may give you some support.

Talking to Your Doctor, Midwife, or a Genetic Counselor 

Keep open communication about prenatal testing with your care provider. Talk about the risks and benefits before opting for a test. You may also want to meet with a genetic counselor to help you navigate testing. A genetic counselor can help you understand the chances that your baby may be affected by a particular condition, how a condition would impact your baby’s life, and go into detail on possible treatment options.

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