what are birth defects

Definition:
- Birth defects are structural changes present at birth that can affect almost any part of the body such as the heart, brain, or foot.
- They may influence how the body functions, its appearance, or both.
Terminology Sensitivity:
- Although "birth defects" is a medical term, it does not imply that an individual is "defective."
- Instead, it refers to health conditions that develop in a baby before birth.
- To maintain accuracy and sensitivity, it is preferred to use specific names for the condition when possible.
Severity:
- Birth defects can vary significantly, ranging from mild to severe.
- Health outcomes and life expectancy are contingent on which body part is affected and the nature of that effect.

Timing of Development:
- Birth defects can arise during any stage of pregnancy.
- The majority of birth defects occur during the first three months of pregnancy when the body's organs are forming.
- Some birth defects, however, may develop later in pregnancy as tissues and organs continue to develop.
Prevalence:
- Birth defects are relatively common, affecting approximately one in every thirty-three babies born in the United States annually.
- They are also identified as the leading cause of infant deaths, accounting for twenty percent (1 in 5) of all infant deaths.

Known Causes:
- Certain birth defects, such as fetal alcohol spectrum disorder, have identified causes.
Unidentified Causes:
- For many birth defects, the causes remain unknown.
- It is believed that a complex interplay of various factors—including genetics, behavior, and environmental influences—leads to most birth defects, although the exact mechanisms are not fully understood.
Increasing Risk Factors:
- Factors that may elevate the risk of having a baby with birth defects include:
- Smoking during pregnancy.
- Drinking alcohol or using specific drugs during pregnancy.
- Medical conditions such as uncontrolled diabetes.
- Certain medications (e.g., isotretinoin used to treat acne).
- Family history of birth defects.
- Infections during pregnancy, such as Zika virus.
- Experiences of fever exceeding 101°F or elevated body temperatures during pregnancy.
Maternal Age:
- Maternal age can affect the risk of birth defects.
- Some defects are more prevalent among younger mothers, while the risk for certain chromosomal malformations, such as Down syndrome, increases with maternal age.
Risk Understanding:
- It is vital to recognize that a baby can be born with a birth defect regardless of the presence of known risk factors.
- Conversely, having one or more risk factors does not guarantee that a baby will have a birth defect.

Consultation with Healthcare Providers:
- It is advisable for individuals to speak with their doctor about their health and any potential risk factors, as well as ways to maintain health during pregnancy.

Screening Tests:
- Peripheral screening tests can assess whether a baby is more or less likely to have specific birth defects.
- These screening tests do not provide definitive diagnoses; such diagnoses require further diagnostic testing.
Timing of Diagnosis:
- Certain birth defects might not be identified until after the baby is born.
- Some defects may be evident immediately at birth, while others, like specific heart defects or brain defects, may only be diagnosed later in the child's life.

Special Care and Support:
- Babies born with birth defects typically require specialized care and interventions to survive and thrive.
- State birth defect tracking programs serve as essential tools for identifying and referring children as early as possible to necessary services.
Information and Resources for Families:
- Parents of children with birth defects should inquire with their child’s doctor about local resources and treatment options.
- Many children with these conditions may require care from a variety of specialists, and support services can greatly benefit both the child and their parents.
Medical Home Approach:
- A medical home approach to care improves patient and family experiences by providing consistent care, reducing healthcare costs, and increasing the likelihood of addressing both medical and non-medical needs effectively.