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Congenital defects

MedGen UID:
66328
Concept ID:
C0220810
Congenital Abnormality
Synonyms: birth defects; congenital defects

Definition

What are birth defects? A birth defect is a problem that happens while a baby is developing in the mother''s body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.CHAR(13) A birth defect may affect how the body looks, works, or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. Others, like heart disease, are found using special tests. Birth defects can range from mild to severe. How a birth defect affects a child''s life depends mostly on which organ or body part is involved and how severe the defect is.CHAR(13) What causes birth defects? For some birth defects, researchers know the cause. But for many birth defects, the exact cause is unknown. Researchers think that most birth defects are caused by a complex mix of factors, which can include:CHAR(13) -Genetics. One or more genes might have a change or mutation that prevents them from working properly. For example, this happens in Fragile X syndrome. With some defects, a gene or part of the gene might be missing. CHAR(13) -Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing. This is what happens in Turner syndrome. In other cases, such as with Down syndrome, the child has an extra chromosome. . CHAR(13) -Exposures to medicines, chemicals, or other toxic substances. For example, alcohol misuse can cause fetal alcohol spectrum disorders. CHAR(13) -Infections during pregnancy. For example, infection with Zika virus during pregnancy can cause a serious defect in the brain. CHAR(13) -Lack of certain nutrients. Not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects. CHAR(13) Who is at risk of having a baby with birth defects? Certain factors may might increase the chances of having a baby with a birth defect, such as:CHAR(13) -Smoking, drinking alcohol, or taking certain ""street"" drugs during pregnancy. CHAR(13) -Having certain medical conditions, such as obesity or uncontrolled diabetes, before and during pregnancy. CHAR(13) -Taking certain medicines. CHAR(13) -Having someone in your family with a birth defect. To learn more about your risk of having a baby with a birth defect, you can talk with a genetic counselor,. CHAR(13) -Being an older mother, typically over the age of 34 years. CHAR(13) How are birth defects diagnosed? Health care providers can diagnose some birth defects during pregnancy, using prenatal testing. That''s why it important to get regular prenatal care.CHAR(13) Other birth defects may not be found until after the baby is born. Providers may find them through newborn screening. Some defects, such as club foot, are obvious right away. Other times, the health care provider may not discover a defect until later in life, when the child has symptoms.CHAR(13) What are the treatments for birth defects? Children with birth defects often need special care and treatments. Because the symptoms and problems caused by birth defects vary, the treatments also vary. Possible treatments may include surgery, medicines, assistive devices, physical therapy, and speech therapy.CHAR(13) Often, children with birth defects need a variety of services and may need to see several specialists. The primary health care provider can coordinate the special care that the child needs.CHAR(13) Can birth defects be prevented? Not all birth defects can be prevented. But there are things you can do before and during pregnancy to increase your chance of having a healthy baby:CHAR(13) -Start prenatal care as soon as you think you might be pregnant, and see your health care provider regularly during pregnancy. CHAR(13) -Get 400 micrograms (mcg) of folic acid every day. If possible, you should start taking it at least one month before you get pregnant. CHAR(13) -Don''t drink alcohol, smoke, or use ""street"" drugs. CHAR(13) -Talk to your health care provider about any medicines you are taking or thinking about taking. This includes prescription and over-the-counter medicines, as well as dietary or herbal supplements. CHAR(13) -Learn how to prevent infections during pregnancy. CHAR(13) -If you have any medical conditions, try to get them under control before you get pregnant. CHAR(13) Centers for Disease Control and PreventionCHAR(13) [from MedlinePlus]

Professional guidelines

PubMed

Marchini F, Meossi S, Passarini G, Campo G, Pavasini R
Vasc Health Risk Manag 2023;19:379-390. Epub 2023 Jun 30 doi: 10.2147/VHRM.S380240. PMID: 37416511Free PMC Article
Alexopoulos AS, Blair R, Peters AL
JAMA 2019 May 14;321(18):1811-1819. doi: 10.1001/jama.2019.4981. PMID: 31087027Free PMC Article
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Circulation 2014 May 27;129(21):2183-242. Epub 2014 Apr 24 doi: 10.1161/01.cir.0000437597.44550.5d. PMID: 24763516

Recent clinical studies

Etiology

Kikano S, Kannankeril PJ
Pediatr Ann 2022 Oct;51(10):e390-e395. Epub 2022 Oct 1 doi: 10.3928/19382359-20220803-05. PMID: 36215086
Ribas GS, Lopes FF, Deon M, Vargas CR
Cell Mol Neurobiol 2022 Nov;42(8):2593-2610. Epub 2021 Oct 19 doi: 10.1007/s10571-021-01156-6. PMID: 34665389
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Alexopoulos AS, Blair R, Peters AL
JAMA 2019 May 14;321(18):1811-1819. doi: 10.1001/jama.2019.4981. PMID: 31087027Free PMC Article
Nepal M, Che R, Ma C, Zhang J, Fei P
Int J Mol Sci 2017 Aug 19;18(8) doi: 10.3390/ijms18081804. PMID: 28825622Free PMC Article

Diagnosis

Marchini F, Meossi S, Passarini G, Campo G, Pavasini R
Vasc Health Risk Manag 2023;19:379-390. Epub 2023 Jun 30 doi: 10.2147/VHRM.S380240. PMID: 37416511Free PMC Article
Ribas GS, Lopes FF, Deon M, Vargas CR
Cell Mol Neurobiol 2022 Nov;42(8):2593-2610. Epub 2021 Oct 19 doi: 10.1007/s10571-021-01156-6. PMID: 34665389
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Corsello G, Giuffrè M
J Matern Fetal Neonatal Med 2012 Apr;25 Suppl 1:25-9. Epub 2012 Mar 14 doi: 10.3109/14767058.2012.664943. PMID: 22356564
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE
Nat Genet 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. PMID: 21841781Free PMC Article

Therapy

Sankhala RS, Dussupt V, Donofrio G, Gromowski GD, De La Barrera RA, Larocca RA, Mendez-Rivera L, Lee A, Choe M, Zaky W, Mantus G, Jensen JL, Chen WH, Gohain N, Bai H, McCracken MK, Mason RD, Leggat D, Slike BM, Tran U, Jian N, Abbink P, Peterson R, Mendes EA, Freitas de Oliveira Franca R, Calvet GA, Bispo de Filippis AM, McDermott A, Roederer M, Hernandez M, Albertus A, Davidson E, Doranz BJ, Rolland M, Robb ML, Lynch RM, Barouch DH, Jarman RG, Thomas SJ, Modjarrad K, Michael NL, Krebs SJ, Joyce MG
Cell Rep 2023 Aug 29;42(8):112942. Epub 2023 Aug 9 doi: 10.1016/j.celrep.2023.112942. PMID: 37561630Free PMC Article
Alexopoulos AS, Blair R, Peters AL
JAMA 2019 May 14;321(18):1811-1819. doi: 10.1001/jama.2019.4981. PMID: 31087027Free PMC Article
Houck CS, Vinson AE
Arch Dis Child Fetal Neonatal Ed 2017 Jul;102(4):F359-F363. Epub 2017 Mar 10 doi: 10.1136/archdischild-2016-311800. PMID: 28283552
Larsson L, Decker AM, Nibali L, Pilipchuk SP, Berglundh T, Giannobile WV
J Dent Res 2016 Mar;95(3):255-66. Epub 2015 Nov 25 doi: 10.1177/0022034515618887. PMID: 26608580Free PMC Article
Tsang VT, Tran PK, de Leval M
Semin Pediatr Surg 2015 Oct;24(5):252-3. Epub 2015 Jul 4 doi: 10.1053/j.sempedsurg.2015.07.005. PMID: 26382267

Prognosis

Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M
Am J Med Genet A 2019 Dec;179(12):2382-2392. Epub 2019 Sep 30 doi: 10.1002/ajmg.a.61365. PMID: 31566869Free PMC Article
Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K
J Hum Genet 2019 Sep;64(9):833-847. Epub 2019 May 20 doi: 10.1038/s10038-019-0614-4. PMID: 31110235
Larsson L, Decker AM, Nibali L, Pilipchuk SP, Berglundh T, Giannobile WV
J Dent Res 2016 Mar;95(3):255-66. Epub 2015 Nov 25 doi: 10.1177/0022034515618887. PMID: 26608580Free PMC Article
Chapin JC, Hajjar KA
Blood Rev 2015 Jan;29(1):17-24. Epub 2014 Sep 16 doi: 10.1016/j.blre.2014.09.003. PMID: 25294122Free PMC Article

Clinical prediction guides

Alexopoulos AS, Blair R, Peters AL
JAMA 2019 May 14;321(18):1811-1819. doi: 10.1001/jama.2019.4981. PMID: 31087027Free PMC Article
Larsson L, Decker AM, Nibali L, Pilipchuk SP, Berglundh T, Giannobile WV
J Dent Res 2016 Mar;95(3):255-66. Epub 2015 Nov 25 doi: 10.1177/0022034515618887. PMID: 26608580Free PMC Article
Chapin JC, Hajjar KA
Blood Rev 2015 Jan;29(1):17-24. Epub 2014 Sep 16 doi: 10.1016/j.blre.2014.09.003. PMID: 25294122Free PMC Article
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE
Nat Genet 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. PMID: 21841781Free PMC Article
Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA
Hum Reprod Update 2007 Jan-Feb;13(1):63-75. Epub 2006 Sep 28 doi: 10.1093/humupd/dml047. PMID: 17008355

Recent systematic reviews

Ramasauskaite D, Grinciute D
Travel Med Infect Dis 2023 Nov-Dec;56:102667. Epub 2023 Nov 10 doi: 10.1016/j.tmaid.2023.102667. PMID: 37951411
Ravindra K, Chanana N, Mor S
Sci Total Environ 2021 Apr 15;765:142772. Epub 2020 Oct 7 doi: 10.1016/j.scitotenv.2020.142772. PMID: 33183823
Amati F, Hassounah S, Swaka A
Nutrients 2019 May 17;11(5) doi: 10.3390/nu11051098. PMID: 31108910Free PMC Article
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE
Hum Genet 2016 Dec;135(12):1299-1327. Epub 2016 Oct 3 doi: 10.1007/s00439-016-1733-z. PMID: 27699475Free PMC Article
Polyzos KA, Konstantelias AA, Pitsa CE, Falagas ME
Obstet Gynecol 2015 Nov;126(5):1075-1084. doi: 10.1097/AOG.0000000000001068. PMID: 26444106

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