Each January, the March of Dimes, the Centers for Disease Control and Prevention and other national groups come together to focus on birth defects and their prevention during National Birth Defects Prevention Month. A birth defect can affect how the body looks, works or both. Some are easy to see with the naked eye, such as a cleft lip, while others, such as congenital heart disease, are not. Some birth defects are as mild as an extra toe or finger, and others, like heart disease, are much more serious.
Birth defects are important because they affect about one in 33 live births, which means that each year about 120,000 infants are born with a birth defect. They are a leading cause of death in the first year of life and are responsible for more than $2 billion in hospital costs each year in the United States.
Birth defects can be genetic, such as Down syndrome, sickle cell disease or cystic fibrosis, or have an environmental cause, such as an infection or alcohol. In many cases we don’t know the cause of a birth defect, but by tracking birth defects, we have made great progress in their treatment and prevention.
Screenings of newborns and early treatment have been lifesaving and life altering for thousands of babies each year in the United States. There has been an enormous expansion in newborn screening in the nation and in Florida in the past decade, and virtually all newborn babies are tested for more than 30 treatable conditions.
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CONGENITAL HEART DEFECTS
Congenital heart defects represent a significant portion of birth defects. All babies are now tested for congenital heart disease by monitoring blood oxygen levels using a noninvasive device on the arm and leg. In many other conditions diagnosed by newborn screening, including cystic fibrosis and phenylketonuria, special treatments can be started early and markedly reduce or prevent serious complications.
FETAL ALCOHOL SYNDROME
Consumption of alcohol by a pregnant woman can be damaging to her fetus. Alcohol in the mother’s blood passes through the umbilical cord, and when a mother drinks alcohol, so does her infant. Babies born to mothers who consume alcohol during pregnancy are at risk for abnormal facial features, small head size, reduced IQ and other problems, known as fetal alcohol syndrome. There is no safe amount of alcohol to consume during pregnancy or when trying to get pregnant, so to prevent these problems, a woman should not drink alcohol while she is pregnant or when she might get pregnant. Preventing fetal alcohol syndrome is one of the important preventive methods for birth defects.
Another important defect that is largely preventable is spina bifida, when the bones of the spine don’t fold or wrap around the baby’s spinal cord during development. Sometimes these are very mild forms that don’t require treatment, but in rarer or more serious forms the fluid leaks from around the spinal cord, and at times part of the nerves can push out and become damaged.
Research has shown that increasing the amount of folic acid in the diet while pregnant can lower the risk of having a baby born with spina bifida. Bread in the United States is enriched with folic acid, but it is strongly recommended that all women who are pregnant or planning to get pregnant consume 400 micrograms of folic acid each day, which has proven to be safe. By taking this extra vitamin, the incidence of neural tube defects can be reduced by 70 percent.
South Florida this year has been the site of another important cause of birth defect, microcephaly caused by the Zika virus in pregnant women. Microcephaly is a birth defect in which the baby’s head is smaller than expected, related to smaller brain growth. The Zika virus is transmitted through the bite of an infected Aedes species mosquito and in some instances through sexual contact. Pregnant women and women planning pregnancy should avoid areas known to be infected with the Zika virus, and community efforts should focus on mosquito control. Much research is under way in both creative mosquito control and vaccine development.
As we examine birth defect identification in the future, many more opportunities for prevention will be available. In the meantime, follow your physician’s recommendations to avoid preventable birth defects. By following a few simple steps, you can give your baby the best chance for a healthy tomorrow.
R. Rodney Howell, M.D., is a pediatrician who specializes in children with genetic and metabolic diseases at the University of Miami Health System. For more information, visit UHealthSystem.com/patients/pediatrics.