Study Highlights The Role of Folic Acid
In Reducing Neural Tube Defects
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"The biggest way you can measure this is in human terms. We're talking about the difference between a child not making it at all and a child who may grow up to be an Olympic athlete. "                             - Robert Best, Ph.D.

Before Michelle Weeks gave birth to a baby girl with spina bifida in 1995, she had never even heard of the birth defect. “We didn’t know in advance, so it was terrifying for us,” said the Fort Mill, South Carolina resident. “My mom went to the library the next day to find out as much as possible,” she recalled.

While Weeks’ daughter, Brittany, had surgery on her spine when she was less than 24 hours old, the little girl has not required any additional operations and is now a healthy, active seven-year-old. Weeks and her husband learned just how devastating spina bifida can be, and how fortunate Brittany is not to suffer serious problems such as muscle paralysis and loss of bowel and bladder control. That’s why the couple was more than willing to get involved with a long-term research study being conducted by the Division of Genetics. A joint effort with the Medical University of South Carolina and the Greenwood Genetic Center, the project was launched 12 years ago to study the effectiveness of folic acid supplements in women who previously had a baby with a neural tube defect. “I wanted to help with the study so that other women would know what precautions to take to help prevent defects,” Weeks said.

Weeks is one of 370 women involved in the project who had a prior pregnancy with a neural tube defect such as spina bifida or anencephaly. Women from throughout the state are invited to participate after being identified as being appropriate for inclusion in the study. “We find them by every means imaginable, from ultrasound diagnosis to live birth and fetal death records,” said Robert Best, Ph.D., Director, Division of Genetics. The Division of Genetics also studies a control group of women who have not experienced neural tube defects.

Once women are enrolled in the study, they meet with a genetic counselor. Through a comprehensive series of written questions and a face-to-face interview, the counselor obtains a profile on each woman, from what she ate during her previous pregnancy to where she worked to a detailed family medical history. “The whole point is to gather information on what these pregnancies with neural tube defects have in common,” said Carolyn Lovell, one of the prenatal genetic counselors who works with the participants and the project coordinator for the Division of Genetics.

Education on folic acid and the role it plays in the early stages of pregnancy is a critical component of the study. "Ideally women would get adequate folic acid nutritionally. The practical fact of the matter is that getting people to eat healthy, balanced diets every day is difficult," said Dr. Best. So participants are advised to take a daily multivitamin with 400 micrograms of folic acid. The genetic counselors stay in contact with the women by phone, calling them at least every three months to check on them and address any questions and concerns they may have.

If a woman relates that she is considering another pregnancy, then a ten times higher dose of folic acid is prescribed (4 milligrams), which needs to be taken at least three months before conception and in early pregnancy. Over the 12-year period, the outcomes of 276 subsequent pregnancies were documented. Only two women had recurrences of neural tube defects, neither of whom took folic acid. "We would have expected 10 or so babies with neural tube defects with this number of subsequent pregnancies. Approximately half of them would have passed away prior to birth due to life-threatening birth defects, and the other five would have had potentially serious problems with their spinal cord, " said Dr. Best. "This long term prospective study confirms what we suspected about the importance of prevention through folic acid," he said.

The study will continue as long as funding remains available. Dr. Best credits Dr. Roger Stephenson for his leadership role in developing the statewide project and in securing financial support year after year. "We would like to expand the study to evaluate other types of birth defects and how they might respond to vitamins," he said.

Dr. Best is encouraged by the work that has been done to date. "The biggest way you can measure this is in human terms. We're talking about the difference between a child not making it at all and a child who may grow up to become an Olympic athlete. There are 10 children walking around in South Carolina today because they got past that critical stage of development in the first month after conception," he said.

Reprinted from Connections newsletter, July 2002

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