Birth defect | |
---|---|
Other names | Congenital disorder, congenital disease, congenital deformity, congenital anomaly[1] |
![]() | |
Incomplete cleft lip | |
Specialty | Medical genetics, pediatrics |
Symptoms | Physical disability, intellectual disability, developmental disability[2] |
Usual onset | Present at birth[2] |
Types | Structural, functional[3] |
Causes | Genetics, exposure to certain medications or chemicals, certain infections during pregnancy[4] |
Risk factors | Insufficient folic acid, drinking alcohol or smoking, poorly controlled diabetes, mother over the age of 35[5][6] |
Treatment | Therapy, medication, surgery, assistive technology[7] |
Frequency | 3% of newborns (US)[8] |
Deaths | 628,000 (2015)[9] |
A birth defect[a] is an abnormal condition that is present at birth, regardless of its cause.[2] Birth defects may result in disabilities that may be physical, intellectual, or developmental.[2] The disabilities can range from mild to severe.[6] Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works.[3] Functional disorders include metabolic and degenerative disorders.[3] Some birth defects include both structural and functional disorders.[3]
Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy.[4] Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old.[5][6] Many are believed to involve multiple factors.[6] Birth defects may be visible at birth or diagnosed by screening tests.[10] A number of defects can be detected before birth by different prenatal tests.[10]
Treatment varies depending on the defect in question.[7] This may include therapy, medication, surgery, or assistive technology.[7] Birth defects affected about 96 million people as of 2015[update].[11] In the United States, they occur in about 3% of newborns.[8] They resulted in about 628,000 deaths in 2015, down from 751,000 in 1990.[9][12] The types with the greatest numbers of deaths are congenital heart disease (303,000), followed by neural tube defects (65,000).[9]
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