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Birth defects research

  • The processes of development still hold many mysteries.
  • We're working to prevent birth defects and find treatments.
  • Sought: genetic and environmental causes of birth defects.
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Identifying prematurity genes

Premature birth is a leading cause of infant death and disabilities in this country. In about half of all cases, doctors don’t know why a woman delivers too soon. But some of the answers may lie in our genes.

Jeffrey C. Murray, MD, a March of Dimes grantee at the University of Iowa in Iowa City is conducting a comprehensive search of the entire human genome for gene variants that may contribute to premature birth. Genetic factors are known to influence at least 40 percent of spontaneous premature births – but the actual genes are unknown. Dr. Murray also is seeking to identify environmental factors, such as smoking and maternal weight, that may interact with these variants to cause premature birth.

A new study by Dr. Murray and colleagues has identified two potential prematurity genes. One of these genes is carried by the mom, and the other by the baby. Presence of either of these genes may cause a pregnancy to be more prone to premature delivery. Most research on the role of genetics in preterm labor has focused on the mother. However, this and other studies suggest that genetic factors in the baby may sometimes contribute.  

Identifying prematurity genes is an important step in predicting which women are at increased risk of premature delivery and eventually developing new treatments to help prevent it.

Research breakthroughs

From the PKU test to surfactant and nitric oxide therapies, March of Dimes funded research is saving the lives of thousands of babies.

Most common questions

Can folic acid help prevent birth defects?

Studies show that if all women in the United States took the recommended amount of folic acid before and during early pregnancy, up to 70 percent of neural tube defects (NTDs) could be prevented. Folic acid also may help prevent other birth defects, including cleft lip/palate and some heart defects.

How many babies are born with birth defects?

More than 120,000 babies (1 in 33) in the United States are born each year with birth defects.

What Causes birth defects?

Genetic and environmental factors, or some combination of these factors, can cause birth defects. Some of the most common birth defects, including heart defects, cleft lip/palate, and neural tube defects (serious birth defects of the brain and spinal cord) are believed to be caused by a combination of genetic and environmental factors. However, the causes of most birth defects are unknown.

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