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Prenatal Screening for Open Neural Tube Defects

Neural tube defects can lead to serious problems for your baby—and they happen before you know you’re pregnant. Prenatal screening can help you be prepared.

Open Neural Tube Defects

Your baby’s brain, spine, and spinal cord all begin as a flat layer of cells. By the end of your first month of pregnancy, and often before you even know that you’re pregnant, these cells roll into a structure called a neural tube that will eventually become your baby’s nervous system. If this tube fails to close at any point, it can leave an opening. This failure to close can lead to birth defects called open neural tube defects.

There is no cure for open neural tube defects. These defects leave nerves exposed and susceptible to damage, and if there’s a loss of function at birth, it’s usually permanent. There are some treatments available that can prevent further damage and help with complications, and some tests exist that can help mothers be prepared for their child’s arrival. The perinatologists of Valley Perinatal Services can help guide you through your high-risk pregnancy from conception to delivery and help you prepare for what could happen.

Types of Open Neural Tube Defects

Depending on where the opening is, there are different types of neural tube defects.

Spina Bifida

This is the most common form of open neural tube disorder, and happens when the bones in the spine don’t close properly. This leads to parts of the spinal cord poking out through the spine. Babies with spina bifida could have paralyzed legs, problems controlling their bladder or bowels, dyskinesia, or problems walking later in life, depending on where in the spine the opening is. Some children could have intellectual or learning disabilities. This type of neural tube disorder can sometimes be treated with surgery before or shortly after birth, and your healthcare team can help you make that decision.

Anencephaly

Anencephaly is a more severe but less common open neural tube disorder. It occurs when the neural tube doesn’t close at the very top, meaning that the baby will be missing parts of its brain, skull, or scalp. While they can continue to grow in the womb, these babies are usually stillborn or die a few hours after they’re born.

Encephalocele

When the neural tube fails to close near the brain, this can leave an opening in the skull. The brain and protective sac protrude from the skull at this opening, which can lead to paralysis, developmental delays, intellectual disabilities, vision problems, fluid buildup, or other problems. Surgery could help place the brain back inside of the skull and close the opening, but the exact outlook depends on where the opening is, which parts of the brain are affected, and whether there are other birth defects.

Open Neural Tube Defect Risk Factors

We’re not exactly sure what causes open neural tube defects. They can happen in any family, even those with no history. However, children with a family history of neural tube defects, whether due to a parent or a sibling, are at a higher risk. Here are some of the other risk factors to keep in mind:


• Maternal obesity
• Poorly controlled maternal diabetes
• Certain anti-seizure medications
• Environmental factors such as air pollution, lead exposure, and cigarette smoke
• Hispanic or caucasian mothers
• Having a high fever in the first trimester


A genetic counselor can help you figure out your future child’s risk of having an open neural tube disorder based on you and your partner’s genetics.

Prenatal Screening and Diagnosis

Open neural tube defects are usually diagnosed before a child is born, whether through lab or imaging tests. A blood test called a double, triple, or quad screen can measure substances in a mother’s blood to check if her pregnancy would have an increased risk of a neural tube defect. Ultrasounds can be used to detect whether a pregnancy is at risk for defects like encephalocele. If you’re at an increased risk of having a baby with an open neural tube disorder, other tests like amniocentesis or a more detailed ultrasound of your baby’s skull and spine can be performed.

What Can I Do?

The most important thing that you can do is to make sure that you get enough folic acid before and during your pregnancy. Folic acid, which is also called folate when it comes from food sources, is a B vitamin that’s required for normal cell growth and development. Talk to your healthcare team about getting enough folic acid, especially if you’ve already had a pregnancy affected by open neural tube disorders or you have other risk factors. Look for “fortified” or “enriched” grain products and beans, leafy green vegetables, and oranges and orange juice for food sources in addition to your vitamins.

Prenatal Screening at Valley Perinatal Services

No mother wants to know that her baby could have a hard life from the moment it’s born. On the other hand, getting a prenatal screening done can help you know if your pregnancy is likely to be at risk for open neural tube defects. Being able to diagnose your baby with one before it’s born can also help you prepare and educate yourself on your child’s future health care. Valley Perinatal Services is here to support mothers-to-be and their families: Talk with your Ob/Gyn about co-managing your pregnancy with a Maternal-Fetal Medicine Specialists at Valley Perinatal. Call 480.756.6000 or contact us online.

Gynecological Screening With Valley Perinatal Services

Medicine is making advances every day, so reliable early screening could be possible in the future. We at Valley Perinatal want to make sure our patients and their families are cared for to the highest standards, and we’ll look for the information you need to inform your future healthcare decisions. Whether you’re looking for genetic testing to examine your risk for ovarian cancer, or want a screening test to examine something a little closer, we have specially trained staff and state-of-the-art equipment to help you find the source of your health concerns, monitor them for any changes, and be with you every step of the way. For more information or to schedule a service, call 480.756.6000, or contact us online.