Black maternal and infant mortality rates remain a painful and urgent reality in the United States. For many Black families, pregnancy is filled with joy, but it can also carry justified concerns about safety, access, and being heard. Early prenatal care and advances in prenatal genetic screening are powerful tools that can help improve outcomes, expand options, and provide clarity sooner rather than later. In this in-depth Q&A, we explore how early testing, informed decision-making, and culturally competent care can support healthier pregnancies and empower Black parents from the very beginning.

Q. Black maternal and infant mortality rates are disproportionately high. How can early prenatal care and prenatal genetic screening help improve outcomes for Black families?

It’s critical for all patients to have access to early prenatal care and testing to receive the best care and make the best decisions for their families. The earlier we get care, the earlier we can test for genetic conditions, get results, and determine whether there are intervention options for patients (for example, through medication, specialized monitoring, and treatment).

Early detection expands your options; more time to learn, plan, feel prepared, and bring in specialists to offer more tailored care and reassurance. The later we get into care or test for genetic conditions, the fewer options may be available. Catching potential issues early can allow the care team to address them earlier. For example, high blood pressure can be managed, thyroid issues can be corrected, and anemia can be treated.

Q. For new or expectant parents who may feel overwhelmed, how would you describe what a healthy pregnancy looks like today, particularly for Black mothers who face additional medical risks?

Your pregnancy experience can benefit from being open with your care team. Bring up your concerns and expectations from the beginning to ensure you are all on the same page and can put together a successful birth plan. Throughout the process, make sure to ask questions about anything that is unclear, speak up about symptoms, and tell your provider how you are feeling physically and emotionally. It’s also very important to be transparent with your doctor about your medical history and family medical history. There are direct correlations between specific health conditions and pregnancy, and having all of that information upfront allows your team to provide you with the best care to meet your specific needs.

Q. What key prenatal appointments and screenings should parents expect in the first trimester, and why is early detection so important?

OBGYNs often first see patients between six and eight weeks to run baseline labs, get baseline vitals, and do an ultrasound. The lab work gives us insight into the patient’s medical history (e.g., blood sugar or blood pressure abnormalities). The ultrasound tells us important details about the health of the pregnancy (are there multiples/twins, is it an ectopic (outside the uterus) pregnancy, or an anembryonic pregnancy/miscarriage). That first visit is important for creating a clear roadmap for the rest of your pregnancy and guiding all subsequent decisions.

From there, providers typically will see patients every four weeks or so.

Between the first and second visit (between eight and 12 weeks) is the most important time to consider prenatal screening to analyze the baby’s DNA and assess their health, and to determine whether any follow-up is needed sooner in pregnancy. One of the most common genetic screening tests offered is the non-invasive prenatal test (NIPT), a simple blood test that can be done as early as 9 weeks.

It screens for certain chromosomal conditions, and, depending on your situation, your provider may also recommend collecting information about your baby’s RhD or antigen status, which, for some patients, can be important for preventing complications later in pregnancy. You may also be offered screening for recessive conditions, such as through the UNITY screen, which can tell you if you are a carrier for certain inherited conditions (like sickle cell disease) that can affect your baby’s risk of being affected.

Q. In simple terms, what is prenatal genetic testing, and what kinds of conditions can it screen for?

There are two main types of genetic conditions all pregnant people are usually offered screening for, regardless of personal or family history:

• Chromosomal conditions, like Down syndrome, usually occur randomly due to extra or missing chromosomes. Every pregnancy carries a small risk for these conditions, regardless of family history.
• Other conditions (like cystic fibrosis or sickle cell disease) are inherited, or passed down through families. Parents who carry a gene change related to these conditions are healthy themselves and usually have no symptoms, so most people never know they are carriers. These are called recessive conditions, and a baby can only be affected when both parents are carriers of the same condition.

While the chance of having a baby with one of these conditions is generally low, learning about risk early in pregnancy gives families time, options, and reassurance. Early screening can help parents:

• Decide whether diagnostic testing is right for them.
• Choose a birth plan that’s right for them and their baby, like a hospital with specialized care.
• Connect with specialists, like pediatric experts, sooner.
• Feel more informed and empowered throughout their pregnancy.

The American College of Obstetricians and Gynecologists (ACOG) recommends screening all pregnant patients for certain inherited conditions, including cystic fibrosis, sickle cell disease, and SMA (Spinal Muscular Atrophy). These conditions are more common than most people realize, and carriers typically have no symptoms.

Traditional screening identifies parental carrier status only (whether parents are carriers). UNITY goes further as the first prenatal test that estimates a baby’s risk for certain chromosomal and inherited conditions. UNITY uses just one simple blood draw from the pregnant parent to estimate the baby’s risk for both chromosomal and inherited conditions.

This is possible thanks to UNITY’s unique molecular counting technology (QCTs), which can measure tiny fragments of fetal DNA with extraordinary precision. While the science behind it is complex, the promise is simple: clearer answers, earlier in pregnancy, for more families.

This innovative approach was designed to give families clearer information sooner, when it can make a critical impact. By giving clinicians and parents a clear, comprehensive view of fetal risk, they are empowered to evaluate options when early action may matter most.

Q. How can genetic testing help identify risks that may contribute to pregnancy complications or preterm birth, conditions that disproportionately affect Black infants?

Early genetic testing examines maternal and placental DNA. There are no trisomies or DNA conditions that specifically affect Black infants. It’s the maternal carrier screening that’s most important for determining what type of follow-up babies will need if the mother’s carrier screening is positive. NIPT uses technology to evaluate whether the baby is also at higher risk for any of these conditions the mother might carry.

This allows us to determine the best course of action for prenatal care and whether involvement from high-risk specialists is needed (for example, to make sure babies are getting enough blood flow throughout their growth) as well as what type of postnatal/pediatric care they may need to have available (for example, is a tertiary hospital, that provides specialized medical care for complex conditions, recommended for the birth).

One key thing that we see amongst women of color, including Black women, is that their carrier screening more often comes back as positive for the following conditions:

• The Thalassemias (Alpha-Thalassemia or Beta-Thalassemia) – Alpha-thalassemia is a blood disorder that reduces hemoglobin production, leading to anemia of varying severity. More severe forms can cause life-threatening complications before or after birth. Treatment depends on severity and may include blood transfusions, iron chelation, and bone marrow transplantation. Beta-thalassemia is a genetic condition that impairs red blood cell production, leading to anemia, fatigue, and potential organ damage. Severe forms, such as beta-thalassemia major, require regular blood transfusions and iron management. Gene therapy and bone marrow transplants are potential treatment options.
• The Hemoglobinopathies – Inherited blood disorders caused by genetic mutations affecting hemoglobin, leading to either abnormal hemoglobin structure, like sickle cell disease (Misshapen red blood cells cause anemia, pain crises, and infections that can lead to more severe complications. Recent FDA-approved gene therapies can alleviate symptoms and improve quality of life.), or reduced hemoglobin production, like Thalassemia (see above).
• Spinal Muscular Atrophy – A neuromuscular disorder that leads to progressive muscle weakness and loss of movement due to degeneration of motor neurons. Severity varies, with the most severe forms appearing in infancy. Treatments like gene therapy and SMN1-enhancing medications can slow disease progression and improve quality of life.

Q. Many Black women report feeling unheard during prenatal visits. What practical steps can parents take to advocate for themselves or request additional testing when something feels off?

Asking questions is critical. Your care provider doesn’t know what questions you have unless you advocate for yourself and voice those questions.

Women are encouraged to bring a support person (like a partner or family member) to prenatal visits so they have two sets of ears to better digest and understand information, and an advocate when they may not feel comfortable asking questions. Prior to the visit, run through what types of questions you want to ask with your support person.

Keep a running list of questions as you think of them, leading up to each visit, write them down, and bring them to your visit. Many patients draw a blank during the appointment and forget to ask certain questions. This will help to ensure that all of your questions are addressed. It’s a good idea to ask those questions at the beginning of the appointment so your doctor can tailor the conversation to what’s important to you during the visit, as well as the routine tests that need to be completed. Also, writing down their response to those questions is the best way to remember what they said.

Q. How accurate are today’s noninvasive prenatal tests compared to those available in the past, and how does this improved accuracy support decision-making for expectant parents?

Noninvasive prenatal tests (NIPTs) have evolved significantly in recent years and have been designed to address some of the challenges (for example, inaccuracy rates and missed conditions) associated with reliance on less precise hormone-level measurements. Modern NIPTs analyze tiny pieces of DNA from the pregnancy to detect common chromosomal conditions with accuracy, usually starting around 9 weeks. This can mean more clarity and peace of mind earlier in pregnancy.

These advances in technology can improve how we treat patients during pregnancy and postpartum. We can ensure the correct care team is available to care for babies and mothers with certain pregnancy conditions. This type of detailed DNA testing can provide early insights and reassurance about which interventions may be needed, leading to healthier outcomes and deliveries.

Q. If a test shows something unexpected, what are the recommended next steps, and what support is available to help parents understand their options?

Typically, if results from the NIPT or carrier test are positive for any condition, the OBGYN will refer those patients to a high-risk specialist. OBGYNs rely on those specialists to review some treatment and diagnostic modalities. These patients are also likely to be paired with a genetic counselor. Together, this team will determine the next best steps and whether further testing is needed.

It’s important to remember that your OBGYN is part of a larger care team working together to provide an extra set of eyes and additional data on any additional testing that may need to be done. Some of that is learning more about the mother’s and father’s history; some of it is more diagnostic testing or procedures (like a CVS (Chorionic Villus Sampling) or amniocentesis, which takes fluid from around the baby) to better confirm some of the information received through preliminary screening results. 

Q. Are there lifestyle habits, supplements, or health choices that significantly improve pregnancy outcomes that parents might not hear about during standard prenatal appointments?

Generally, I’m a big advocate of exercise during pregnancy. One of the most important things we can do in pregnancy is to keep moving. A big misconception is that once you get pregnant, you have to stop exercising. My patients who remain active throughout their pregnancy typically do better in terms of their blood pressure, blood sugar, labor, and healing and recovery.

There’s a wide range of types of exercise a pregnant woman can do. Whether that’s going on a daily walk or actually going to the gym to lift weights, run, use the elliptical, stairmaster, or cycle. All of these things may be possibilities in pregnancy that can continue until they are no longer comfortable, unless the patient’s physician has advised against it.

In terms of nutrition, a well-balanced diet is critical. Often, women can’t eat as much as they could prior to pregnancy because the progesterone hormone causes them to feel fuller. Plus, the larger the uterus gets, the higher it pushes your intestines up into your stomach, so you don’t have the same capacity to maintain the same eating habits that you did prior to pregnancy. Instead, I typically recommend that pregnant women have five small meals a day: a small breakfast, a snack, a small lunch, a snack, and a small dinner. This helps to avoid feeling stuffed or nauseous and also keeps blood sugar levels more even throughout the day.

Finally, daily prenatal vitamins are important because they provide nutrients that support a successful pregnancy.

Q. What should fathers and partners know about supporting a healthy pregnancy and participating in the prenatal screening and testing process?

It’s important for partners to know that moods change often during pregnancy, so give your partner a lot of encouragement, some space, and ask them how they want to be supported during the pregnancy, because every woman will require something different. Make sure to give each other grace as you navigate the process.

Fathers should be aware that they may need to be available for follow-up genetic testing (a blood test) if anything is flagged by the initial NIPT and a broader picture is needed to understand what may be going on with the baby.

Q. From your perspective, what systemic changes are still needed in prenatal care to better protect Black mothers and babies, and where does genetic testing fit into that progress?

Systemic changes needed include improving insurance products and access to make sure that everyone has access to good prenatal care. Making sure that all pregnant women can get in early for screenings and care.

From the pipeline of medical school, I would advocate ensuring that there are culturally competent obstetrical physicians being trained.

In situations where patients lack insurance, expanding the types of public options available is important.

As far as genetic testing, we need to ensure that it is cost-effective, with a good cost structure, and that insurance will cover what should be standard pregnancy care. Some of that will come through political lobbying, but patients can also discuss with their insurance company the need for coverage of these tests to help build healthier communities.

Healthy pregnancies are built on information, access, partnership, and trust. Early prenatal care, comprehensive screening, and open communication with providers can dramatically improve outcomes by identifying concerns sooner and creating a clear, proactive plan of care. While systemic changes are still needed to close the gap in maternal and infant health disparities, families are not powerless. Asking questions, requesting appropriate testing, bringing support to appointments, and staying informed are meaningful steps toward safer pregnancies and stronger beginnings. Every Black parent deserves clarity, options, and compassionate care throughout the journey to welcoming their baby.

Author Dr. Naima Bridges

This article was authored by representatives of BillionToOne, Inc. and Dr. Naima Bridges, OBGYN, with Dr. Bridges contributing content that conveys medical expertise and recommendations. Dr. Bridges is a licensed physician and also serves as a paid medical advisor for BillionToOne.