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Birth defect

This article is about congenital disorders in humans. For other organisms, see Teratology.
Birth defect
Other namesCongenital disorder, congenital disease, congenital deformity, congenital anomaly[1]
A boy with Down syndrome, one of the most common birth defects[2]
SpecialtyMedical genetics, pediatrics
SymptomsPhysical disability, intellectual disability, developmental disability[3]
Usual onsetPresent at birth[3]
TypesStructural, functional[4]
CausesGenetics, exposure to certain medications or chemicals, certain infections during pregnancy[5]
Risk factorsInsufficient folic acid, drinking alcohol or smoking, poorly controlled diabetes, mother over the age of 35[6][7]
TreatmentTherapy, medication, surgery, assistive technology[8]
Frequency3% of newborns (US)[2]
Deaths628,000 (2015)[9]

A birth defect, also known as a congenital disorder, is an abnormal condition that is 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.[9][12] The types with the greatest numbers of deaths are congenital heart disease (303,000), followed by neural tube defects (65,000).[9]

  1. ^ Ruth A. Hannon (2010). Porth pathophysiology : concepts of altered health states (1st Canadian ed.). Philadelphia, PA: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 128. ISBN 978-1-60547-781-7.
  2. ^ a b c "Birth Defects". Dec 15, 2015. Archived from the original on 18 June 2018. Retrieved 17 Jan 2016.
  3. ^ a b c d "Birth Defects: Condition Information". www.nichd.nih.gov. September 2017. Archived from the original on 22 December 2017. Retrieved 8 December 2017.
  4. ^ a b c d "What are the types of birth defects?". www.nichd.nih.gov. September 2017. Archived from the original on 22 December 2017. Retrieved 8 December 2017.
  5. ^ a b "What causes birth defects?". www.nichd.nih.gov. September 2017. Archived from the original on 17 December 2017. Retrieved 8 December 2017.
  6. ^ a b "How many people are affected by/at risk for birth defects?". www.nichd.nih.gov. Archived from the original on 17 December 2017. Retrieved 8 December 2017.
  7. ^ a b c d "What are Birth Defects?". Centers for Disease Control and Prevention. 7 September 2017. Archived from the original on 15 June 2018. Retrieved 14 April 2023.
  8. ^ a b c "What are the treatments for birth defects?". www.nichd.nih.gov. September 2017. Archived from the original on 20 December 2017. Retrieved 8 December 2017.
  9. ^ a b c GBD 2015 Mortality and Causes of Death, Collaborators. (8 October 2016). "Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1459–1544. doi:10.1016/s0140-6736(16)31012-1. PMC 5388903. PMID 27733281. {{cite journal}}: |first1= has generic name (help)CS1 maint: numeric names: authors list (link)
  10. ^ a b "How do health care providers diagnose birth defects?". www.nichd.nih.gov. September 2017. Archived from the original on 22 December 2017. Retrieved 8 December 2017.
  11. ^ GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. (8 October 2016). "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1545–1602. doi:10.1016/S0140-6736(16)31678-6. PMC 5055577. PMID 27733282. {{cite journal}}: |first1= has generic name (help)CS1 maint: numeric names: authors list (link)
  12. ^ GBD 2013 Mortality and Causes of Death, Collaborators (17 December 2014). "Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013". Lancet. 385 (9963): 117–71. doi:10.1016/S0140-6736(14)61682-2. PMC 4340604. PMID 25530442. {{cite journal}}: |first1= has generic name (help)CS1 maint: numeric names: authors list (link)
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