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Neural Tube Defect

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What is a Neural Tube Defect?

A neural tube defect (NTD) is a birth defect that affects the brain, spine or spinal cord. They happen very early in pregnancy, often before a person knows they are pregnant.

NTDs defects occur in about 1 in 3000 pregnancies. The two most common types are neural tube defects, when the neural tube does not close properly, and anencephaly, which affects the brain.

Spinal NTDs, called spina bifida, happen in about 1 in 1500 pregnancies each year. There are two types of spina bifida: open (exposed nerves) and closed (covered by skin or tissue).

Many babies born with an NTD are otherwise healthy with no other birth abnormalities or genetic problems. NTDs do, however, come with an increased risk for genetic syndromes.

What Causes Neural Tube Defects?

The exact cause of NTDs is unknown, but it is thought to be a combination of complex genetic, nutritional, and environmental factors.

Providers and scientists do know that folic acid plays a role in the development of NTDs, which is why it’s important for expectant mothers to receive enough folic acid (a key nutrient in prenatal vitamins) prior to getting pregnant.

Other conditions such as diabetes and high fevers in early pregnancy that can also increase the risk.

UR Medicine's Treatments for Neural Tube Defect

Our experienced maternal and fetal care specialists and UR Medicine's Golisano Children's Hospital offer a complete range of diagnostic and treatment options to care for babies with neural tube defects, both before and after birth.

Most pregnancies with NTDs will need advanced imaging, as well as additional evaluation and assessment prior to birth. UR Medicine offers the region’s only fetal MRI center, to help evaluate many complex fetal conditions and placenta abnormalities.

Our team offers a full range of options for evaluation of your baby, including:

As part of your initial prenatal assessment, our team will perform a full anatomy scan of your baby by ultrasound, a fetal echocardiogram (imaging of your baby’s heart), and gather information about your health history. Based on these findings, we can help determine the follow-up needed and the likelihood of complications after birth.

You will be offered genetic testing, as some children with this condition will have a genetic disorder. You may be offered additional testing with an amniocentesis. Our MFM physicians and fellows will review all the findings and treatment options with you before scheduling any next steps.

Babies with NTD are at high risk for complications during and after delivery, like infection in the spinal cord. Your baby may need surgical care after delivery by pediatric neurosurgery to close the associated spinal defect.

Golisano Children’s Hospital is home to the regions only Pediatric Developmental and Behavioral team that can help provide support and information about what to expect when a child is diagnosed with these conditions prior to birth.

UR Medicine's Maternal-Fetal Care team will work you and your family to help you arrange these consultations and be prepared for the times ahead.

What Sets Us Apart?

When you are facing a pregnancy with a complex condition, just making all the needed
appointments can be overwhelming. As part of our care for our complex pregnant people and
babies, our team of fetal and maternal care coordinators are your link to your clinical team as
your pregnancy progresses.

Your MFM care coordinators will ensure you receive all the information and support you need
before and during delivery at UR Medicine's Golisano Children’s Hospital.

These care specialists can help with everything from:

 Coordinating referrals to UR Medicine’s specialists and experts

 Navigating appointment schedules

 Explaining complex testing and test results

 Planning for delivery

 Answering your questions at any point during your pregnancy

UR Medicine is home to the only center in the Finger Lakes region that offers this care, and is
very experienced in caring for these critically ill infants.

While this a very rare defect, affecting only 1500 babies in the U.S. each year, our team is the
most experienced in the region.

Over the last five years, our teams have cared for more than 500 fetuses and infants with this
condition and other disorders of the brain and spine; more than anyone else in the region.


Our care team is here for you. Find a UR Medicine expert and get care now.

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6 locations

Reproductive Genetics - Rochester

Lattimore Medical Center
125 Lattimore Road, West Entrance, Suite 150
Rochester, NY 14620

Maternal-Fetal Medicine - Henrietta

500 Red Creek Drive, Suite 210
Rochester, NY 14623

Maternal-Fetal Medicine - Rochester

Lattimore Medical Center
125 Lattimore Road, West Entrance, Suite 150
Rochester, NY 14620

Maternal-Fetal Medicine - Rochester

Highland Perinatal Center
990 South Avenue, Suite 103
Rochester, NY 14620

Maternal-Fetal Medicine - Rochester

Highland Perinatal Center
909 Culver Road
Rochester, NY 14609

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