What You Need to Know About Birth Defect Prevention: A Candid Consult

Birth defects can affect 1 in every 33 babies born in the U.S. each year. While not all birth defects are preventable, there are several ways you can increase your chances of having a healthy baby. As January is National Birth Defect Prevention Month, it’s the perfect opportunity to raise awareness and empower yourself through education. In this edition of Candid Consult, we spoke with Dr. Meghal Patel of Harmony OB/GYN to understand the causes, symptoms, and screening options, as well as his advice for women who are recently pregnant or planning to conceive.

1. What is a birth defect?

A birth defect is a problem in the development of the fetus that can affect how the body develops or functions. A birth defect can occur because of a genetic abnormality, environmental exposures, and other lifestyle behaviors.

2. What are some of the most common types of birth defects?

Common birth defects include genetic disorders like Down syndrome or Tuners syndrome, diseases passed down through families like Tay-Sachs or cystic fibrosis, or structural problems like heart or neural tube defects, including spina bifida.

Symptoms of a birth defect can vary widely but can include things such as abnormal shaped hands, feet, limbs, ears, mouth, or face, as well as heart problems, joint problems, trouble feeding, and frequent infections.

3. What can be done to help reduce the risk of potential birth defects?

While certain birth defects aren’t preventable, there are some things we know for certain that can help support a healthy pregnancy and baby:

Avoid alcohol at any point during pregnancy as alcohol can affect the development of a baby’s central nervous system and brain.
Avoid smoking cigarettes and vaping as this has been linked to issues including cleft palate and even infant death.
Mothertobaby.org is a good resource for evaluating the safety or risk of specific medications during pregnancy.
Take a prenatal vitamin that is rich with folic acid, which can reduce the risk for brain and spinal cord defects, like spina bifida. On average, 400 micrograms (mcg) are recommended daily; however, your healthcare provider may suggest a higher dose.
Ensure you’re up to date on vaccinations before pregnancy; vaccinations such as the COVID-19 vaccine, MMR (measles-mumps-rubella), chickenpox and seasonal flu can keep you and baby healthy and safe.

Certain factors like advanced maternal age, as well as pre-existing conditions including uncontrolled diabetes can increase your baby’s risk for birth defects.

If you are planning to become pregnant, make a pre-conception appointment with your Axia Women’s Health provider to evaluate your current health status. The more we know about your health before you enter pregnancy, the better we can assist in helping you throughout your pregnancy journey.

4. What tools are available to screen for birth defects?

While birth defects can occur at any stage of pregnancy, it’s common for them to occur within the first 3 months as the baby’s organs are forming. Through innovations in medicine and technology, we’re now able to screen for potential abnormalities much earlier than in years past through non-invasive genetic testing.

First Trimester Screening

During the first trimester, your provider will offer you an ultrasound that creates pictures of the baby and helps us to look for changes that could indicate a birth defect.

Additionally, you have the option to undergo a specific type of genetic testing known as Non-Invasive Prenatal Testing (NIPT), or cell-free DNA screening (cfDNA). This is a simple blood draw that can help to screen for some of the most common genetic issues. This test can now be done at as early as 9 or 10 weeks and can be used to screen for conditions including Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome), among other disorders.

It’s important to note that NIPT and other first trimester screening tests are not diagnostic, meaning an abnormal result may need further evaluation and testing. As with many tests, there is always the chance for a “false positive” or even a “false negative.” Moreover, the option of invasive testing is important to discuss with your provider before making any decision.

While the decision to do genetic testing is a personal one, many patients feel more informed and empowered to make decisions about the future and are reassured by the results.

Diagnostic Testing

If the screening test detects an abnormality, it may be recommended that you undergo an invasive test, like a chorionic villus sampling (CVS) that takes a small biopsy of the placenta or an amniocentesis that takes a small sample of amniotic fluid to test for genetic abnormalities. These tests can be used to form a diagnosis and are highly effective.

Second Trimester Screening

Throughout your second trimester, you’ll continue to have regular checkups to monitor the health of both you and your baby. It’s during the second trimester – around 20 weeks – when your doctor will conduct an ultrasound to help rule out anatomical defects.

5. Can a birth defect be diagnosed after a baby is born?

In some cases, a birth defect may not be immediately seen until birth or later. If you have any concerns, your pediatrician may consult with a medical geneticist who can explore your child’s health further and advise on treatment. While there is no cure for most birth defects, there may be treatment options to help improve your child’s quality of life.

Overall, one of the most important things you can do to care for your baby is to connect with your provider early and to focus on your health as well! Your Axia Women’s Health care team is here to support you throughout your journey.