Prenatal Testing
Understanding Your Options During Pregnancy
Pregnancy involves many important decisions.
One of the most common questions expectant parents have is which prenatal tests are recommended and what those tests can tell them.
Prenatal testing helps monitor the health of both the pregnant person and the developing baby. Some tests are part of routine prenatal care. Others screen for genetic or chromosomal conditions. Understanding your options can help you feel informed, prepared, and confident in your conversations with your healthcare provider.
This page outlines current best-practice recommendations for prenatal testing and explains available genetic screening options.
Standard Prenatal Testing
Standard prenatal testing focuses on monitoring overall health and identifying conditions that may require follow-up care. Below is an outline of common, routine tests that are an important part of prenatal care and are designed to support a healthy pregnancy.
Your blood type and Rh status are usually determined early in pregnancy through a blood test. This information helps guide pregnancy monitoring and management.
A blood test that checks for anemia and other blood-related conditions.
This test screens for gestational diabetes at designated intervals based on your care provider's recommendations
Testing for certain infections is recommended to protect both parent and baby. The Center for Disease Control recommends that all pregnant women get tested for HIV, hepatitis B virus (HBV), hepatitis C virus (HCV), and syphilis during each pregnancy.
Ultrasound imaging monitors fetal growth, development, and anatomy throughout pregnancy.
A urine test is often performed to check for signs of infection, dehydration, or other conditions that may affect pregnancy.
This test looks for bacteria in the urine that may not cause symptoms but could require treatment during pregnancy.
Genetic Prenatal Screening
Genetic prenatal testing provides information about certain inherited or chromosomal conditions that may affect a pregnancy or a baby’s health. These screening options are typically offered during pregnancy to help you better understand your pregnancy and consider next steps in care. Some patients choose to have screening early, while others prefer more limited testing. The decision to pursue screening is personal and should be made in partnership with your healthcare provider.
NIPS is a simple blood test that screens for certain chromosomal conditions as early as 10 weeks of pregnancy. It looks at small pieces of DNA from the placenta in your bloodstream to estimate the chance of specific conditions. NIPS screens for conditions such as Down syndrome (trisomy 21), trisomy 18, trisomy 13, and sex chromosome differences. Additional screening for 22q11.2 deletion syndrome and your baby’s RhD status may be included based on your provider’s selection. You can also choose to learn your baby’s sex.
NIPS is a screening test, not a diagnostic test. Results help guide next steps in care and may indicate if additional testing is recommended.
Carrier screening is a blood test that analyzes your genes to identify whether you carry a genetic change linked to an inherited disorder that could be passed on to your child. Because we all have two copies of each gene in every cell of our body, carriers are typically healthy when one copy works normally. Knowing this information early can help guide pregnancy and family planning decisions.
If both parents are carriers of the same condition, there is an increased chance their child could be affected. These genetic changes may also impact other family members. Carrier screening can be performed before pregnancy or during pregnancy. Prepregnancy screening allows partners to understand their carrier status earlier and consider available reproductive options.
Carrier screening is a screening test, not a diagnostic test. Results help guide next steps in care and may indicate if additional testing is recommended.
Fetal RhD screening is available for RhD negative patients. Approximately 85% of individuals carry a protein in their blood called the Rh (Rhesus) factor. When an Rh-negative mother carries an Rh-positive baby, her immune system can react to the baby’s blood cells. This can be safely managed with routine treatment during pregnancy.
The Fetal RhD screening can screen for your baby’s RhD blood type using a simple blood draw from you. Knowing this information early helps guide safe, personalized pregnancy care.
How to decide what tests are right for you
Choosing prenatal testing is a personal decision. Some patients want as much information as possible early in pregnancy. Others prefer more limited testing. Your provider can help you review:
- Your medical and family history
- The benefits and limitations of each test
- What results may mean
- What next steps might involve
By working together with your healthcare professional, you can explore your options and make a decision that feels right for you.
Prenatal Testing Timeline
Prenatal testing occurs at different stages throughout pregnancy. While timing may vary, the following timeline reflects general clinical guidance and helps outline when certain tests may be offered.
Before Pregnancy or Early PregnancyThese early tests help your provider understand your overall health and identify anything that may require monitoring during pregnancy. |
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First Trimester (10–13 Weeks) |
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Second Trimester (15–22 Weeks) |
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24–28 Weeks |
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Late Pregnancy (35–37 Weeks) |
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Yes. Routine prenatal tests and genetic screening tests such as NIPS and carrier screening require only blood samples and do not pose a risk to the pregnancy.
Yes. Prenatal testing is optional. Your provider can explain the purpose, benefits, and limitations of each test so you can make an informed decision.
No. No test can detect all medical or genetic conditions. Screening focuses on specific conditions included in the selected test panel.
Prenatal testing happens at different stages throughout pregnancy. Some tests are performed early, such as blood type and infection screening. Others, like glucose screening and Group B strep testing, are done later. Your provider will outline a schedule based on your stage of pregnancy.
Your healthcare provider may recommend additional testing or refer you for genetic counseling to review the results and discuss next steps.
Gestational diabetes screening checks how your body processes sugar during pregnancy. Identifying gestational diabetes allows your provider to recommend steps that help support a healthy pregnancy.
Noninvasive Prenatal Screening can typically be performed beginning at 10 weeks of pregnancy. Carrier screening may be done before pregnancy or during pregnancy.
Your blood type and Rh factor are checked early in pregnancy as part of routine care. This information helps your provider plan appropriate monitoring and ensure you receive any standard preventive care that may be recommended during pregnancy.
No. Genetic screening tests estimate risk. A positive result indicates an increased chance but does not confirm a diagnosis. Diagnostic testing may be recommended for more definitive answers.
Down syndrome, also known as Trisomy 21, occurs when a baby is born with an extra copy of chromosome 21. It is one of the most common chromosomal conditions, occurring in approximately 1 in every 640 to 700 live births in the United States. Individuals with Down syndrome may experience intellectual differences that range from mild to more significant, and health needs can vary widely from person to person.
Some children with Down syndrome are born with medical conditions such as congenital heart differences or other health concerns that may require specialized care. Advances in medical treatment and early intervention services have significantly improved health outcomes and quality of life. Today, many individuals with Down syndrome live into their 60s and beyond.
It is also important to note that not all pregnancies affected by Down syndrome continue to term. Research indicates that a substantial proportion of pregnancies with Trisomy 21 result in miscarriage or fetal loss before delivery. However, among babies born with Down syndrome, long-term survival has improved dramatically over the past several decades due to advances in medical care.
Trisomy 13, also known as Patau syndrome, is a genetic condition in which a baby is born with an extra copy of chromosome 13. This can cause serious health and developmental challenges, including heart, brain, and physical abnormalities. It is a rare condition and is typically identified through prenatal screening or diagnostic testing.
Trisomy 18, also known as Edwards syndrome, is a genetic condition in which a baby is born with an extra copy of chromosome 18. It can cause serious health and developmental challenges, including heart defects, growth delays, and other medical complications. It is a rare condition and is typically identified through prenatal screening or diagnostic testing.
22q11.2 deletion syndrome is a genetic condition caused by a small missing piece of chromosome 22. In most cases, the syndrome occurs for the first time in the affected person, but about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner, which means that if a parent has the deletion, each child has a 50% chance of inheriting it.
This condition can affect multiple parts of the body. Some individuals may have health considerations such as heart defects, immune system differences, cleft palate, or developmental and learning differences. The way 22q11.2 deletion syndrome presents can vary widely. Some individuals may have mild symptoms, while others may have more complex medical needs.
22q11.2 deletion syndrome occurs in about 1 in 4,000 people. However, the condition may actually be more common than this estimate because doctors and researchers suspect it is underdiagnosed due to its variable features.
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