Back Aangebore afwyking Afrikaans عيب خلقي Arabic Вродени заболявания Bulgarian Urođena mana BS Trastorn congènit Catalan Vrozená nemoc Czech Fehlbildung German Enfermedad congénita Spanish Sortzetiko eritasun Basque ناهنجاری مادرزادی Persian

Birth defect

This article is about congenital disorders in humans. Not to be confused with teratology or genetic disorder.
Birth defect
Other namesCongenital disorder, congenital disease, congenital deformity, congenital anomaly[1]
Incomplete cleft lip
SpecialtyMedical genetics, pediatrics
SymptomsPhysical disability, intellectual disability, developmental disability[2]
Usual onsetPresent at birth[2]
TypesStructural, functional[3]
CausesGenetics, exposure to certain medications or chemicals, certain infections during pregnancy[4]
Risk factorsInsufficient folic acid, drinking alcohol or smoking, poorly controlled diabetes, mother over the age of 35[5][6]
TreatmentTherapy, medication, surgery, assistive technology[7]
Frequency3% of newborns (US)[8]
Deaths628,000 (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.[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]

  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 d "Birth Defects: Condition Information". www.nichd.nih.gov. September 2017. Archived from the original on 22 December 2017. Retrieved 8 December 2017.
  3. ^ 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.
  4. ^ a b "What causes birth defects?". www.nichd.nih.gov. September 2017. Archived from the original on 17 December 2017. Retrieved 8 December 2017.
  5. ^ 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.
  6. ^ 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.
  7. ^ 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.
  8. ^ a b "Birth Defects". Dec 15, 2015. Archived from the original on 18 June 2018. Retrieved 17 Jan 2016.
  9. ^ a b c Wang, Haidong; et al. (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.
  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. ^ Vos, Theo; et al. (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.
  12. ^ "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. 17 December 2014. doi:10.1016/S0140-6736(14)61682-2. PMC 4340604. PMID 25530442.


Cite error: There are <ref group=lower-alpha> tags or {{efn}} templates on this page, but the references will not show without a {{reflist|group=lower-alpha}} template or {{notelist}} template (see the help page).

Developed by StudentB