Birth defects, also known as congenital malformations or anomalies, are abnormalities in the structure or function of organs that are present at birth. They are the leading cause of infant death and contribute to morbidity and long-term disability in the population. Birth defects are a heterogeneous group of outcomes that are not always apparent at delivery. Major birth defects are structural malformations that are either lethal, require medical or surgical treatment, or are of cosmetic importance.

The frequency of congenital anomalies is highest in pregnancies that result in miscarriages or stillbirths. Major birth defects occur in 2% to 3% of live births in the United States. Some of the most common types of birth defects are heart defects (1 in 100 to 200), neural tube defects ...

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