Editing Birth defect (section)

{{Short description|Condition present at birth regardless of cause}}
{{About-distinguish|congenital disorders in humans|teratology|genetic disorder}}
{{Infobox medical condition
| name          = Birth defect
| synonyms      = Congenital disorder, congenital disease, congenital deformity, congenital anomaly<ref>{{cite book|author1=Ruth A. Hannon|title=Porth pathophysiology : concepts of altered health states|date=2010|publisher=Wolters Kluwer Health/Lippincott Williams & Wilkins|location=Philadelphia, PA|isbn=978-1-60547-781-7|page=128|edition=1st Canadian|url=https://books.google.com/books?id=2-MFXOEG0lcC&pg=PA128}}</ref>
| image         = Incomplete Cleft Lip.png
| caption       = Incomplete [[cleft lip]]
| field         = [[Medical genetics]], [[pediatrics]]
| symptoms      = [[Physical disability]], [[intellectual disability]], [[developmental disability]]<ref name=NIH2017Def/>
| complications =
| onset         = Present at birth<ref name=NIH2017Def/>
| duration      =
| types         = Structural, functional<ref name=NIH2017What/>
| causes        = [[Genetics|Genetic]]s, exposure to certain medications or chemicals, certain [[infection]]s during [[pregnancy]]<ref name=NIH2017Ca/>
| risks         = Insufficient [[folic acid]], drinking [[ethanol|alcohol]] or [[smoking]], poorly controlled [[diabetes]], mother over the age of 35<ref name=NIH2017Risk/><ref name=CDC2017Fact/>
| diagnosis     =
| differential  =
| prevention    =
| treatment     = [[Therapy]], medication, surgery, [[assistive technology]]<ref name=NIH2017Tx/>
| medication    =
| prognosis     =
| frequency     = 3% of newborns (US)<ref name=CDC2015Epi/>
| deaths        = 628,000 (2015)<ref name=GBD2015De/>
| alt           =
}}

<!-- Definition and symptoms -->
A '''birth defect'''{{efn|Also known as a '''congenital disorder''', '''congenital disease''', '''congenital deformity''', or '''congenital anomaly'''.}} is an abnormal condition that is present at [[childbirth|birth]], regardless of its cause.<ref name="NIH2017Def" /> Birth defects may result in [[disability|disabilities]] that may be [[physical disability|physical]], [[intellectual disability|intellectual]], or [[developmental disability|developmental]].<ref name=NIH2017Def>{{cite web|title=Birth Defects: Condition Information|url=https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/Pages/default.aspx|website=www.nichd.nih.gov|date=September 2017 |access-date=8 December 2017|archive-date=22 December 2017|archive-url=https://web.archive.org/web/20171222005255/https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/Pages/default.aspx|url-status=live}}</ref> The disabilities can range from mild to severe.<ref name="CDC2017Fact">{{cite web |date=7 September 2017 |title=What are Birth Defects? |url=https://www.cdc.gov/ncbddd/birthdefects/facts.html |access-date=14 April 2023 |website=Centers for Disease Control and Prevention |language=en-us |archive-date=15 June 2018 |archive-url=https://web.archive.org/web/20180615073401/https://www.cdc.gov/ncbddd/birthdefects/facts.html |url-status=live }}</ref> Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and [[functional disorder]]s in which problems exist with how a body part works.<ref name=NIH2017What/> Functional disorders include [[metabolic disorder|metabolic]] and [[degenerative disease|degenerative disorders]].<ref name=NIH2017What/> Some birth defects include both structural and functional disorders.<ref name=NIH2017What>{{cite web|title=What are the types of birth defects?|url=https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/pages/types.aspx|website=www.nichd.nih.gov|date=September 2017 |access-date=8 December 2017|archive-date=22 December 2017|archive-url=https://web.archive.org/web/20171222005918/https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/pages/types.aspx|url-status=live}}</ref>

<!-- Cause and diagnosis -->
Birth defects may result from [[genetic disorder|genetic]] or [[chromosome abnormality|chromosomal disorders]], exposure to certain medications or chemicals, or certain [[vertically transmitted infection|infections during pregnancy]].<ref name=NIH2017Ca>{{cite web|title=What causes birth defects?|url=https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/pages/causes.aspx|website=www.nichd.nih.gov|date=September 2017 |access-date=8 December 2017|archive-date=17 December 2017|archive-url=https://web.archive.org/web/20171217014359/https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/Pages/causes.aspx|url-status=live}}</ref> Risk factors include [[folate deficiency]], [[alcohol drink|drinking alcohol]] or [[Smoking and pregnancy|smoking]] during pregnancy, poorly controlled [[gestational diabetes|diabetes]], and a mother over the age of 35 years old.<ref name=NIH2017Risk>{{cite web|title=How many people are affected by/at risk for birth defects?|url=https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/pages/risk.aspx|website=www.nichd.nih.gov|access-date=8 December 2017|archive-date=17 December 2017|archive-url=https://web.archive.org/web/20171217014346/https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/Pages/risk.aspx|url-status=live}}</ref><ref name=CDC2017Fact/> Many birth defects are believed to involve multiple factors.<ref name=CDC2017Fact/> Birth defects may be visible at birth or diagnosed by [[newborn screening|screening tests]].<ref name=NIH2017Diag/> A number of defects can be detected before birth by different [[prenatal testing|prenatal tests]].<ref name=NIH2017Diag>{{cite web|title=How do health care providers diagnose birth defects?|url=https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/pages/diagnosed.aspx|website=www.nichd.nih.gov|date=September 2017 |access-date=8 December 2017|archive-date=22 December 2017|archive-url=https://web.archive.org/web/20171222005911/https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/pages/diagnosed.aspx|url-status=live}}</ref>

<!-- Treatment and epidemiology -->
Treatment varies depending on the defect in question.<ref name=NIH2017Tx/> This may include [[therapy]], medication, surgery, or [[assistive technology]].<ref name=NIH2017Tx>{{cite web|title=What are the treatments for birth defects?|url=https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/pages/treatment.aspx|website=www.nichd.nih.gov|date=September 2017 |access-date=8 December 2017|archive-date=20 December 2017|archive-url=https://web.archive.org/web/20171220090604/https://www.nichd.nih.gov/health/topics/birthdefects/conditioninfo/Pages/treatment.aspx|url-status=live}}</ref> Birth defects affected about 96 million people {{as of|2015|lc=y}}.<ref name="GBD2015Pre">{{Cite journal |date=8 October 2016 |title=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. |journal=Lancet |volume=388 |issue=10053 |pages=1545–1602 |doi=10.1016/S0140-6736(16)31678-6 |pmc=5055577 |pmid=27733282 |last1=Vos |first1=Theo |last2=Allen |first2=Christine |last3=Arora |first3=Megha |last4=Barber |first4=Ryan M. |last5=Bhutta |first5=Zulfiqar A. |last6=Brown |first6=Alexandria |last7=Carter |first7=Austin |last8=Casey |first8=Daniel C. |last9=Charlson |first9=Fiona J. |last10=Chen |first10=Alan Z. |last11=Coggeshall |first11=Megan |last12=Cornaby |first12=Leslie |last13=Dandona |first13=Lalit |last14=Dicker |first14=Daniel J. |last15=Dilegge |first15=Tina |last16=Erskine |first16=Holly E. |last17=Ferrari |first17=Alize J. |last18=Fitzmaurice |first18=Christina |last19=Fleming |first19=Tom |last20=Forouzanfar |first20=Mohammad H. |last21=Fullman |first21=Nancy |last22=Gething |first22=Peter W. |last23=Goldberg |first23=Ellen M. |last24=Graetz |first24=Nicholas |last25=Haagsma |first25=Juanita A. |last26=Hay |first26=Simon I. |last27=Johnson |first27=Catherine O. |last28=Kassebaum |first28=Nicholas J. |last29=Kawashima |first29=Toana |last30=Kemmer |first30=Laura |display-authors=1 }}</ref> In the United States, they occur in about 3% of newborns.<ref name=CDC2015Epi>{{cite web|title=Birth Defects|url=https://www.cdc.gov/ncbddd/birthdefects/data.html|access-date=17 Jan 2016|date=Dec 15, 2015|archive-date=18 June 2018|archive-url=https://web.archive.org/web/20180618042145/https://www.cdc.gov/ncbddd/birthdefects/data.html|url-status=live}}</ref> They resulted in about 628,000 deaths in 2015, down from 751,000 in 1990.<ref name=GBD2015De/><ref name=GBD204>{{cite journal|title=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.|journal=Lancet|date=17 December 2014|pmid=25530442|doi=10.1016/S0140-6736(14)61682-2|volume=385|issue=9963|pages=117–71|pmc=4340604 |author=((GBD 2013 Mortality and Causes of Death Collaborators))}}</ref> The types with the greatest numbers of deaths are [[congenital heart disease]] (303,000), followed by [[neural tube defects]] (65,000).<ref name=GBD2015De>{{cite journal|title=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.|journal=Lancet|date=8 October 2016|volume=388|issue=10053|pages=1459–1544|pmid=27733281|doi=10.1016/s0140-6736(16)31012-1|pmc=5388903 |last1=Wang |first1=Haidong |last2=Naghavi |first2=Mohsen |last3=Allen |first3=Christine |last4=Barber |first4=Ryan M. |last5=Bhutta |first5=Zulfiqar A. |last6=Carter |first6=Austin |last7=Casey |first7=Daniel C. |last8=Charlson |first8=Fiona J. |last9=Chen |first9=Alan Zian |last10=Coates |first10=Matthew M. |last11=Coggeshall |first11=Megan |last12=Dandona |first12=Lalit |last13=Dicker |first13=Daniel J. |last14=Erskine |first14=Holly E. |last15=Ferrari |first15=Alize J. |last16=Fitzmaurice |first16=Christina |last17=Foreman |first17=Kyle |last18=Forouzanfar |first18=Mohammad H. |last19=Fraser |first19=Maya S. |last20=Fullman |first20=Nancy |last21=Gething |first21=Peter W. |last22=Goldberg |first22=Ellen M. |last23=Graetz |first23=Nicholas |last24=Haagsma |first24=Juanita A. |last25=Hay |first25=Simon I. |last26=Huynh |first26=Chantal |last27=Johnson |first27=Catherine O. |last28=Kassebaum |first28=Nicholas J. |last29=Kinfu |first29=Yohannes |last30=Kulikoff |first30=Xie Rachel |display-authors=1 }}</ref>
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