While some defects are treatable with drugs or surgery, it's usually your family's efforts to create a positive environment for your child that help minimize the disability. The first thing you should do if your child is diagnosed with a birth defect is get a second or more opinion.
Start with your pediatrician or obstetrician, who can refer you to appropriate specialists. In addition to appointments with specialists, you should also keep up with regularly scheduled well-baby visits , because many birth defect complications can be treated through early detection and intervention.
Here are some of the most common birth defects in the U. Prevalence: Congenital heart defects occur in about 1 in births and have a variety of causes, including genetic abnormalities or a mistake during fetal development. Some may be so mild that they have no visible symptoms.
Detection: In such cases the doctor usually discovers the problem when they detect an abnormal heart sound—called a murmur—during a routine examination. Some murmurs are meaningless; further tests are usually required to determine whether your baby's is due to a heart defect. Serious heart defects are outwardly detectable and, if left untreated, can cause congestive heart failure, in which the heart becomes incapable of pumping enough blood to the lungs or other parts of the body.
Symptoms: Rapid heartbeat; breathing difficulties; feeding problems which result in inadequate weight gain ; swelling in the legs, abdomen, or the eyes; pale grey or bluish skin.
Treatment: Most heart defects can be corrected or at least improved through surgery, drugs, or a mechanical aid like a pacemaker. Prevalence: Clubfoot occurs in approximately 1 in 1, newborns —affecting boys about twice as often as girls—and includes several kinds of ankle and foot deformities. The exact cause of clubfoot isn't clear, but it's probably a combination of heredity and environmental factors that affect fetal growth. Symptoms: Clubfoot can be mild or severe and can affect one or both feet.
Mild clubfoot is not painful and won't bother the baby until they begin to stand or talk. Treatment: For a mild case, treatment starts immediately after diagnosis and involves gently forcing the foot into the correct position and helping the child do special exercises.
Often, however, the baby needs more drastic treatment, such as plaster casts, bandaging with splints followed by time in special shoes, or surgery followed by exercises.
The process may take three to six months, which checkups for several years after. Prevalence: Cleft lip or palate appears in about 1 in Caucasian babies , more often among Asians and certain groups of Native Americans, and less frequently among Black people. Causes: The exact cause is hard to determine, but it's likely that genetic and environmental factors interact to prevent either the hard palate the roof of the mouth , the soft palate the tissue at the back of the mouth , or the upper lip, all of which normally are split early in fetal development, from closing.
Symptoms: The cleft can be mild a notch on the upper lip or severe involving the lip, the floor of the nostril, and the dental arch. A child with a cleft palate usually needs a speech pathologist. Language development can be affected not only by the structure of the lip and palate but also by the side effects of middle-ear infections, which are common in babies and toddlers with this defect probably because their ears don't drain properly.
A disease or defect also can happen when only one parent passes along the gene for that disease. This includes birth defects such as achondroplasia a form of dwarfism and Marfan syndrome. Finally, some boys inherit disorders from genes passed onto them only by their mothers. These defects, which include conditions like hemophilia and color blindness, are called X-linked because the genes are carried on the X chromosome. Many birth defects are diagnosed even before a baby is born through prenatal tests.
Prenatal tests also can help determine if a mother has an infection or other condition that is dangerous for the fetus. Knowing about a baby's health problems ahead of time can help parents and doctors plan for the future.
It's important to remember that screening identifies only the possibility that a baby has a defect. Some women give birth to a healthy baby after a screening test shows that a defect may be present. If you're pregnant, talk to your doctor about any tests he or she thinks you should have. Other birth defects are found during routine newborn screenings.
With parents' permission, babies are tested after birth to screen for certain birth defects that need to be treated. In the U. These include smoking, using illegal drugs, and drinking alcohol while pregnant. Other factors, such as exposure to toxic chemicals or viruses, also increase risk. All pregnant women have some risk of delivering a child with a birth defect.
Risk increases under any of the following conditions:. Women with pre-existing medical conditions, such as diabetes , are also at a higher risk of having a child with a birth defect. Birth defects are typically classified as structural or functional and developmental. Structural defects are when a specific body part is missing or malformed.
The most common structural defects are:. Functional or developmental birth defects cause a body part or system not to work properly. These often cause disabilities of intelligence or development.
Functional or developmental birth defects include metabolic defects, sensory problems, and nervous system problems. Some children face physical problems associated with specific birth defects. However, many children show no visible abnormalities. Defects can sometimes go undetected for months or even years after the child is born.
Many types of birth defects can be diagnosed during pregnancy. A healthcare professional can use prenatal ultrasounds to help them diagnose certain birth defects in utero.
More in-depth screening options, such as blood tests and amniocentesis taking a sample of the amniotic fluid , may also be done. These tests are usually offered to women who have higher-risk pregnancies due to family history, advanced maternal age, or other known factors. A physical examination and hearing test may also help the doctor diagnose birth defects after the baby is born.
A blood test called the newborn screen can help doctors diagnose some birth defects shortly after birth, before symptoms occur. A screening test can also falsely identify defects. However, most birth defects can be diagnosed with certainty after birth. Treatment options vary depending on the condition and level of severity.
Some birth defects can be corrected before birth or shortly after. If your child has a birth defect, you should ask his or her doctor about local resources and treatment. Geneticists, genetic counselors, and other specialists are another resource. Find more information for families who have a child with a birth defect ». Skip directly to site content Skip directly to page options Skip directly to A-Z link. Birth Defects.
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