A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause.^[3] Birth defects may result in disabilities that may be physical, intellectual, or developmental.^[3] The disabilities can range from mild to severe.^[7] 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.^[4] Functional disorders include metabolic and degenerative disorders.^[4] Some birth defects include both structural and functional disorders.^[4]

Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy.^[5] Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old.^[6][7] Many are believed to involve multiple factors.^[7] 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.^[8] This may include therapy, medication, surgery, or assistive technology.^[8] Birth defects affected about 96 million people as of 2015.^[11] In the United States, they occur in about 3% of newborns.^[2] They resulted in about 628,000 deaths in 2015, down from 751,000 in 1990.^[12][9] The types with the greatest numbers of deaths are congenital heart disease (303,000), followed by neural tube defects (65,000).^[9]

Source

We will be adding more information in the future. Have questions or looking for guidance regarding a life-limiting diagnosis? Contact us here.