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Major Congenital Anomaly

MedGen UID:
926311
Concept ID:
C4288779
Congenital Abnormality

Definition

A major congenital anomaly is a structural or functional defect with the following three characteristics: 1) Of prenatal origin; 2) Present at the time of live birth or fetal demise, or in utero; 3) Affecting (or has the propensity to affect) the health, survival, or physical or cognitive functioning of the individual. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMajor Congenital Anomaly

Professional guidelines

PubMed

Mirnia K, Dindarian S, Mohammadi S, Rostami P, Mohammadi H
Rev Paul Pediatr 2022;40:e2020376. Epub 2022 May 6 doi: 10.1590/1984-0462/2022/40/2020376IN. PMID: 35544902Free PMC Article
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Trainor PA, Andrews BT
Am J Med Genet C Semin Med Genet 2013 Nov;163C(4):283-94. Epub 2013 Oct 4 doi: 10.1002/ajmg.c.31375. PMID: 24123981Free PMC Article

Recent clinical studies

Etiology

Islam K, Khatun N, Das K, Paul S, Ghosh T, Nayek K
J Trop Pediatr 2023 Oct 5;69(6) doi: 10.1093/tropej/fmad036. PMID: 37986651
Miles KG, Farkas DK, Laugesen K, Sørensen HT, Kasparian NA, Madsen N
Circulation 2023 Oct 31;148(18):1381-1394. Epub 2023 Sep 18 doi: 10.1161/CIRCULATIONAHA.123.064705. PMID: 37721036Free PMC Article
Calvert C, Carruthers J, Denny C, Donaghy J, Hopcroft LEM, Hopkins L, Goulding A, Lindsay L, McLaughlin T, Moore E, Taylor B, Loane M, Dolk H, Morris J, Auyeung B, Bhaskaran K, Gibbons CL, Katikireddi SV, O'Leary M, McAllister D, Shi T, Simpson CR, Robertson C, Sheikh A, Stock SJ, Wood R
Nat Commun 2023 Jan 6;14(1):107. doi: 10.1038/s41467-022-35771-8. PMID: 36609574Free PMC Article
Benevent J, Araujo M, Beau AB, Sicard D, Sommet A, Hurault-Delarue C, Lacroix I, Damase-Michel C
Infection 2023 Feb;51(1):137-146. Epub 2022 Jun 11 doi: 10.1007/s15010-022-01861-4. PMID: 35689790
Fuller AE, Horváth-Puhó E, Ray JG, Ehrenstein V, Sørensen HT, Cohen E
Pediatrics 2021 May;147(5) Epub 2021 Apr 2 doi: 10.1542/peds.2020-028571. PMID: 33811179

Diagnosis

Miles KG, Farkas DK, Laugesen K, Sørensen HT, Kasparian NA, Madsen N
Circulation 2023 Oct 31;148(18):1381-1394. Epub 2023 Sep 18 doi: 10.1161/CIRCULATIONAHA.123.064705. PMID: 37721036Free PMC Article
Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK
Circ Genom Precis Med 2023 Apr;16(2):e003791. Epub 2023 Feb 21 doi: 10.1161/CIRCGEN.122.003791. PMID: 36803080Free PMC Article
Calvert C, Carruthers J, Denny C, Donaghy J, Hopcroft LEM, Hopkins L, Goulding A, Lindsay L, McLaughlin T, Moore E, Taylor B, Loane M, Dolk H, Morris J, Auyeung B, Bhaskaran K, Gibbons CL, Katikireddi SV, O'Leary M, McAllister D, Shi T, Simpson CR, Robertson C, Sheikh A, Stock SJ, Wood R
Nat Commun 2023 Jan 6;14(1):107. doi: 10.1038/s41467-022-35771-8. PMID: 36609574Free PMC Article
Wang H, Barisic I, Loane M, Addor MC, Bailey LM, Gatt M, Klungsoyr K, Mokoroa O, Nelen V, Neville AJ, O'Mahony M, Pierini A, Rissmann A, Verellen-Dumoulin C, de Walle HEK, Wiesel A, Wisniewska K, de Jong-van den Berg LTW, Dolk H, Khoshnood B, Garne E
Am J Med Genet A 2019 Apr;179(4):595-601. Epub 2019 Feb 10 doi: 10.1002/ajmg.a.61067. PMID: 30740879
Dalmer TRA, Clugston RD
Pediatr Res 2019 Jan;85(1):13-19. Epub 2018 Sep 25 doi: 10.1038/s41390-018-0192-8. PMID: 30287891Free PMC Article

Therapy

Islam K, Khatun N, Das K, Paul S, Ghosh T, Nayek K
J Trop Pediatr 2023 Oct 5;69(6) doi: 10.1093/tropej/fmad036. PMID: 37986651
Calvert C, Carruthers J, Denny C, Donaghy J, Hopcroft LEM, Hopkins L, Goulding A, Lindsay L, McLaughlin T, Moore E, Taylor B, Loane M, Dolk H, Morris J, Auyeung B, Bhaskaran K, Gibbons CL, Katikireddi SV, O'Leary M, McAllister D, Shi T, Simpson CR, Robertson C, Sheikh A, Stock SJ, Wood R
Nat Commun 2023 Jan 6;14(1):107. doi: 10.1038/s41467-022-35771-8. PMID: 36609574Free PMC Article
Benevent J, Araujo M, Beau AB, Sicard D, Sommet A, Hurault-Delarue C, Lacroix I, Damase-Michel C
Infection 2023 Feb;51(1):137-146. Epub 2022 Jun 11 doi: 10.1007/s15010-022-01861-4. PMID: 35689790
Vlajkovic T, Grigore M, van Eekelen R, Puscasiu L
Cochrane Database Syst Rev 2022 Nov 24;11(11):CD013233. doi: 10.1002/14651858.CD013233.pub2. PMID: 36423200Free PMC Article
Wang H, Barisic I, Loane M, Addor MC, Bailey LM, Gatt M, Klungsoyr K, Mokoroa O, Nelen V, Neville AJ, O'Mahony M, Pierini A, Rissmann A, Verellen-Dumoulin C, de Walle HEK, Wiesel A, Wisniewska K, de Jong-van den Berg LTW, Dolk H, Khoshnood B, Garne E
Am J Med Genet A 2019 Apr;179(4):595-601. Epub 2019 Feb 10 doi: 10.1002/ajmg.a.61067. PMID: 30740879

Prognosis

Islam K, Khatun N, Das K, Paul S, Ghosh T, Nayek K
J Trop Pediatr 2023 Oct 5;69(6) doi: 10.1093/tropej/fmad036. PMID: 37986651
Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK
Circ Genom Precis Med 2023 Apr;16(2):e003791. Epub 2023 Feb 21 doi: 10.1161/CIRCGEN.122.003791. PMID: 36803080Free PMC Article
Zemet R, Krispin E, Johnson RM, Kumar NR, Westerfield LE, Stover S, Mann DG, Castillo J, Castillo HA, Nassr AA, Sanz Cortes M, Donepudi R, Espinoza J, Whitehead WE, Belfort MA, Shamshirsaz AA, Van den Veyver IB
Ultrasound Obstet Gynecol 2023 Jun;61(6):719-727. doi: 10.1002/uog.26152. PMID: 36610024Free PMC Article
Fuller AE, Horváth-Puhó E, Ray JG, Ehrenstein V, Sørensen HT, Cohen E
Pediatrics 2021 May;147(5) Epub 2021 Apr 2 doi: 10.1542/peds.2020-028571. PMID: 33811179
Hirvonen M, Ojala R, Korhonen P, Haataja P, Eriksson K, Gissler M, Luukkaala T, Tammela O
Pediatrics 2018 Aug;142(2) Epub 2018 Jul 17 doi: 10.1542/peds.2017-3888. PMID: 30018154

Clinical prediction guides

Islam K, Khatun N, Das K, Paul S, Ghosh T, Nayek K
J Trop Pediatr 2023 Oct 5;69(6) doi: 10.1093/tropej/fmad036. PMID: 37986651
Oh C, Youn JK, Han JW, Yang HB, Kim HY, Jung SE
J Korean Med Sci 2020 Apr 13;35(14):e98. doi: 10.3346/jkms.2020.35.e98. PMID: 32281315Free PMC Article
Hirvonen M, Ojala R, Korhonen P, Haataja P, Eriksson K, Gissler M, Luukkaala T, Tammela O
Pediatrics 2018 Aug;142(2) Epub 2018 Jul 17 doi: 10.1542/peds.2017-3888. PMID: 30018154
Sy LS, Meyer KI, Klein NP, Chao C, Velicer C, Cheetham TC, Ackerson BK, Slezak JM, Takhar HS, Hansen J, Deosaransingh K, Liaw KL, Jacobsen SJ
Hum Vaccin Immunother 2018 Feb 1;14(2):412-419. Epub 2017 Dec 14 doi: 10.1080/21645515.2017.1403702. PMID: 29140750Free PMC Article
Greskovich JF Jr, Macklis RM
Semin Oncol 2000 Dec;27(6):633-45. PMID: 11130470

Recent systematic reviews

Cheng SPS, Heo K, Joos E, Vervoort D, Joharifard S
World J Pediatr Congenit Heart Surg 2024 Jan;15(1):94-103. Epub 2023 Nov 1 doi: 10.1177/21501351231204328. PMID: 37915213
Bahri N, Dashti S, Mohammadzadeh A, Sharifi N, Hadizadeh-Talasaz F, Mardeneh J
Curr Drug Res Rev 2023;15(2):170-176. doi: 10.2174/2589977515666221212150311. PMID: 36515039
Vlajkovic T, Grigore M, van Eekelen R, Puscasiu L
Cochrane Database Syst Rev 2022 Nov 24;11(11):CD013233. doi: 10.1002/14651858.CD013233.pub2. PMID: 36423200Free PMC Article
Glinianaia SV, Morris JK, Best KE, Santoro M, Coi A, Armaroli A, Rankin J
PLoS Med 2020 Sep;17(9):e1003356. Epub 2020 Sep 28 doi: 10.1371/journal.pmed.1003356. PMID: 32986711Free PMC Article

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