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Birth defects are differences in the way your child’s body develops. There are several types of birth defects, with causes that range from genetic changes to environmental factors. Examples include congenital heart conditions, a cleft lip and Down syndrome. You can’t prevent most birth defects but you can reduce your risk by maintaining good health.
Birth defects are structural changes in a baby’s body that occur during fetal development. These changes can impact any part of the child’s body and may be identified by a healthcare provider during pregnancy, at birth, or later in life. Though some birth defects may not be immediately visible, most are diagnosed within the first year of life.
The effect of a birth defect on a child’s life varies widely depending on the type. Some may only impact appearance, while others can affect physical and cognitive functions.
Birth defects can be diverse in nature and severity. Some of the most common examples include:
Birth defects are more common than often realized. In the United States, approximately 1 in 33 babies, or 120,000 babies per year, are born with a birth defect. This equates to a baby being born with a birth defect every four and a half minutes.
“Birth defect” is a medical term, but sensitivity is important. Using language that respects each person’s unique value and avoids negative connotations is essential. If preferred, alternatives like “congenital conditions” or “physical malformations” may be used.
The symptoms of birth defects vary greatly in type and intensity, from mild to severe, and can affect many parts of the body. Some signs may be detected during pregnancy through screenings, while others become evident after birth. Key signs to watch for during pregnancy and infancy include:
If you notice unusual symptoms in your child, contact your healthcare provider promptly.
Birth defects may result from a variety of factors, including:
Many factors causing birth defects occur during early fetal development, often beyond parental control. Although the cause of most birth defects remains unknown, science has identified genetic factors responsible for around 20% of cases.
Genetic Factors
Some birth defects are caused by chromosomal abnormalities, where a person has too many or too few chromosomes. Examples include:
Medications
Certain medications can increase the risk of birth defects. If you’re pregnant or planning to conceive, consult your healthcare provider about any medications you are taking.
Chemical and Environmental Exposure
Substances like alcohol, drugs, pesticides, and pollution can negatively affect fetal development.
Pregnancy Complications
Factors such as infection, low amniotic fluid, or uterine constraints can increase the risk of birth defects.
Diagnosis can occur before birth, immediately after birth, or later in childhood as symptoms arise. Screening and diagnostic tests available during pregnancy include:
A healthcare provider can often diagnose certain birth defects, such as a cleft lip, at birth, while other conditions may be diagnosed later.
Treatment for birth defects depends on the diagnosis and may include:
Though most birth defects cannot be cured, treatments can help manage symptoms and improve quality of life.
While not all birth defects can be prevented, there are steps you can take to support a healthy pregnancy:
For families navigating a birth defect diagnosis, support networks, healthcare specialists, and regular follow-ups with a pediatrician are essential resources. Connecting with specialists and support groups can also provide invaluable assistance.
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