Birth defects all too common, but preventable, treatable

Many families struggle with the challenges related to birth defects. Children born with birth defects have a higher likelihood of illness and long-term disabilities than those who are born without birth defects. According to the Centers for Disease Control, nearly one in every 33 babies born in the United States are impacted by birth defects. That's a heartbreaking statistic because birth defects are the leading cause of infant mortality among babies born in the U.S., accounting for nearly one fifth of the total number of infant deaths.

Birth defects are defined as problems that occur while an unborn infant is developing in its mother's body, most often during the first trimester of pregnancy. Birth defects can impact how the infant's body looks or works, and can be identified at birth or later, although most are found during the child's first year. Some are obvious, while others, such as heart defects, must be found by special tests. Many birth defects are treatable with surgery or medication, and a great number of children with birth defects can go on to lead healthy lives.

Birth defects come in two general types: structural and functional/developmental. Structural birth defects deal with body parts, functional/developmental defects deal with how a body part or body system works.

Cleft lips and cleft palates are a well-known structural birth defect, and occur in about one in 500 births. These defects occur when the tissue that makes up the roof of the child's moth and upper lip doesn't join while the child is developing. The problem can range in severity to a tiny notch in the lip to a large groove that extends into the top of the mouth and nose. Cleft lips and palates are correctable by surgery. The procedure is generally done in a series of surgeries, the first beginning when the child is about one.

Heart defects are a common birth defect, making up a quarter to a third of all birth defects. Many heart defects involve holes in the heart or narrowing of blood vessels in the heart. Many heart defects are detectable by ultrasound while the child is still in the womb. Most heart defects can be repaired by surgery. Some heart defects will require a number of surgeries and the use of medication over a lifetime.

Cerebral palsy is a condition that affects motor functions and is caused by damage to the brain. People suffering from cerebral palsy have a hard time controlling their muscles, the problem affects different parts of the body on different people and also varies in severity from person to person. Many people suffering from cerebral palsy have other disabilities, including mental retardation. About 10,000 children born in America each year have cerebral palsy. Treatments for cerebral palsy include surgeries, motor skills therapy, braces and other equipment. Speech and occupational therapy can also be of assistance.

Clubfoot affects about 1 in 735 babies born in the U.S. each year, mostly boys. When a child has clubfoot, the bones, muscles, blood vessels and joints in the foot and ankle are malformed, usually causing the feet impacted by the defect to turn down and inward, thus limiting their range of motion. The most common treatment for this defect is a cast that's applied soon after birth. If this treatment doesn't work, surgery and more casts are needed.

Neural tube defects generally happen in the first trimester of pregnancy. These defects happen while the structure that eventually forms the brain and spinal cord is developing. When this tube doesn't seal, the baby ends up with a neural tube defect, which often leads to stillbirth. These defects commonly result in spina bifida, which occurs when the spinal column doesn't completely close around the baby's spinal cord. Consequences of spina bifida can range from mild to severe, in severe cases the defect can cause sufferers to lose bladder and bowel function, become paralyzed or die.

Another neural tube defect is anencephaly. This defect occurs in about three out of 10,000 births in the U.S. In anencephaly the head of the neural tube fails to close, which results in the baby being born without major portions of its brain. The usual result is death.

Down syndrome is a genetic defect that is caused by abnormal cell division in the egg or sperm which results in an extra chromosome in some cells of the body, thus resulting in physical abnormalities and mental retardation. Babies born with Down syndrome have distinctive facial features and often suffer from a number of other health problems.

Many birth defects can be detected during pregnancy. Ultrasound screening can detect a number of problems, including heart defects and other physical abnormalities. Aminocentisis, a procedure in which amniotic fluid is collected from a needle placed in the mother's belly, can detect spina bifida and various other defects.

Women who are over 35 who become pregnant have a higher risk of giving birth to a child with birth defects, as do women who smoke, drink or abuse illegal drugs. Genetic factors can also cause birth defects, and many couples choose to see a genetic counselor before becoming pregnant, especially if either partner was born with a birth defect, or has a history of birth defects in his or her family. A genetic counselor can test for birth defects that may be handed down from parent to child and talk about strategies to avoid this or mitigate the defect.

Early detection of birth defects can help parents prepare to deal with their child's difficulties. Genetic testing and counseling before conception can lead to preventative strategies that can forestall birth defects. Knowlege is the best weapon against birth defects.