Fetal Birth Defects: Know the Risks and Get Support

You can’t plan for everything during pregnancy, but learning about possible risks early can help keep you and your baby healthy.

The AHN Women and Infants Center at Forbes Hospital works to prevent, find, and address fetal birth defects before your baby is born.

What are fetal birth defects, and what causes them?

Fetal birth defects are health problems that can develop while your baby is growing in your body. Some common types include:

• Cystic fibrosis – Affects the lungs, digestive system, and other organs.
• Spinal muscular atrophy – Causes muscle weakness, impacting the ability to walk, breathe, and swallow.
• Down syndrome – Caused by an extra chromosome (cluster of genes), leading to developmental disability and specific physical features.
• Cleft lip or palate – When the roof of the mouth does not fully close during development, causing a split in the upper lip and/or palate.

Birth defects can happen for many reasons, such as:

• Gene mutations (changes)
• Family history of birth defects
• Taking unsafe medications
• Health conditions like diabetes or obesity
• Smoking, drinking, or drug use

Lowering your risk

Even before you’re pregnant, your OB-GYN at Forbes can help you understand your risk for birth defects. They will talk with you about your health, lifestyle, and family history. You may also be offered genetic screening to check for conditions you could pass on to a baby.

“While some factors are out of parents’ control, planning ahead helps create a healthy start for babies,” said Kristie Charek, MD, OB-GYN at Forbes Hospital.

There are things you can do to lower your risk before you get pregnant and throughout your pregnancy:

• Take prenatal vitamins
• Avoid substances and medications that may be harmful to your baby
• If you have diabetes, monitor your blood sugar levels regularly

“It may seem early to talk about birth defects, but testing before and during pregnancy helps us understand how to best support mom and baby” said Dr. Charek.

Prenatal testing (during pregnancy)

Once you are pregnant, your doctor may recommend prenatal tests to check your baby’s development and look for possible birth defects. These might include:

• Bloodwork or an ultrasound to screen for conditions like Down syndrome
• Fetal MRIs to get clear images of the fetus
• Fetal echocardiograms to look at your baby’s heart
• Chorionic villus sampling using your tissue to screen for gene mutations
  

The OB-GYN team at Forbes will answer any questions you have about prenatal tests so you feel supported and fully informed.

Making a care plan

If a birth defect is found, your care team will work with you to develop a plan that fits your needs. They may: 

• Do more anatomy scans.
• Prepare for surgeries or other care your baby may need after birth.
• Discuss all available medical options so you can make the decision that’s right for you and your family.

Emotional support

Navigating fetal birth defects isn’t just challenging physically, but emotionally too. Your care team at Forbes will recommend resources to help you through it, including:

• Counselors to work with you and your loved ones
• Online support groups to connect you with other people going through similar experiences
• Olivia’s Angels Perinatal Palliative Care Program for support from maternal-fetal medicine doctors and neonatal specialists

There for you during every pregnancy, no matter the circumstance

Whether you’re planning ahead or already expecting, the AHN Women and Infants Center at Forbes Hospital is here with expert care and resources so you feel supported through every step. Learn more about AHN’s services for parents and babies.