Congenital anomalies, also known as birth defects, are classified as structural changes in at least one part of the body that is present at birth.
Prevalence of Birth Defects
While many congenital anomalies are mild, many are severe and life-threatening to the infant.
What causes birth defects?
Experts are unsure of the exact cause of many birth defects. However, they believe certain factors can be attributed to congenital anomalies including:
Birth defects are often diagnosed before the baby is born through various testing including blood and saliva testing, genetic testing, and various ultrasounds. Anomalies that are not detected before birth are assessed for and detected during newborn screening tests or by investigating symptoms developed as the infant grows.
Structural defects
Structural birth defects affect the proper development of the structure of the body. These include:
Cleft palate or lip
A cleft palate or cleft lip is the direct result of the tissue around the mouth, lip, or roof of the mouth not forming properly during pregnancy. These defects can affect eating, hearing, and speech in those living with them and often result in the need for surgical intervention within the first few months of life.
Abnormal limbs
Throughout 9 months of pregnancy, a fetus will grow and form two arms and legs and ten fingers and toes. However, sometimes a limb will not fully form, resulting in a limb reduction. The affected limb may be shorter than the other or missing altogether.
Those living with abnormal limbs may experience limited movement. Thankfully, physical therapy can greatly increase the quality of life of these patients.
Heart defects
Heart defects are the most common type of congenital anomaly with no known cause of occurrence. A heart defect or anomaly occurs when one or more areas of the heart do not form properly, affecting how blood can circulate throughout the body. The type of heart defect present is dependent upon the area of the heart affected. Many of these defects require surgical intervention soon after birth. Neural tube defects
Neural tube anomalies affect the spinal cord and brain and occur within the first few months of pregnancy as this is when the brain and spinal cord are forming. The most common types of neural tube defects include:
Anencephaly is a rare structural anomaly affecting the formation of the brain and skull.
Encephalocele, another rare structural anomaly, results in the neural tube not closing fully, allowing the brain to project through the skull.
Spina bifida affects 1 in 2,758 births in the United States and does not allow the spine to form properly and fully close. This anomaly affects the spinal cord, spine, and nerves surrounding it.
Functional birth defects
Functional or developmental birth defects affect the function of a body system including:
Brain or nervous system problems
Defects affecting the brain and nervous system subsequently result in intellectual developmental disabilities, behavioral disorders, speech delays, difficulty in movement, and seizures. Common nervous system or brain defects include Down Syndrome and Fragile X syndrome.
The body uses various bodily functions and organ systems to remove waste and chemicals from the body throughout the day. When one or more of these systems are affected, the body is unable to maintain a healthy state. Of the many possible metabolic disorders, the most common is hypothyroidism.
Degenerative disorders
Degenerative disorders are not readily detected at the time of birth as there are no obvious signs or symptoms. These are diagnosed as a child grows due to a steady decline in the development or health of the person affected. One common degenerative disorder is muscular dystrophy - a condition that causes rapid muscle loss and muscle weakness. Want to Learn More About Birth Defects?
If you have a child with a birth defect and are looking for support, you can connect with your fellow readers on our Healthread app. You can also learn more by visiting the March of DImes websites. Sources
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