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Fetal anomaly

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
Synonyms: Congenital abnormality; Congenital malformation
SNOMED CT: Fetal developmental abnormality (276654001); Congenital anomaly (276654001); Congenital abnormality (276654001); Foetal malformation (276654001); Congenital malformation (276654001); Fetal malformation (276654001); CM - Congenital malformation (276654001); Congenital deformity (276655000)
 
HPO: HP:0034057

Definition

Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFetal anomaly

Professional guidelines

PubMed

Oliver E, Navaratnam K, Gent J, Khalil A, Sharp A
Eur J Obstet Gynecol Reprod Biol 2023 Jun;285:97-104. Epub 2023 Apr 7 doi: 10.1016/j.ejogrb.2023.04.002. PMID: 37087836
Bakker MK, Bergman JEH, Krikov S, Amar E, Cocchi G, Cragan J, de Walle HEK, Gatt M, Groisman B, Liu S, Nembhard WN, Pierini A, Rissmann A, Chidambarathanu S, Sipek A Jr, Szabova E, Tagliabue G, Tucker D, Mastroiacovo P, Botto LD
BMJ Open 2019 Jul 2;9(7):e028139. doi: 10.1136/bmjopen-2018-028139. PMID: 31270117Free PMC Article
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883

Recent clinical studies

Etiology

Shreeve N, Sproule C, Choy KW, Dong Z, Gajewska-Knapik K, Kilby MD, Mone F
Ultrasound Obstet Gynecol 2024 Jan;63(1):15-23. doi: 10.1002/uog.27491. PMID: 37725747
Goumy C, Guy Ouedraogo Z, Soler G, Eymard-Pierre E, Laurichesse H, Delabaere A, Gallot D, Bouchet P, Perthus I, Pebrel-Richard C, Gouas L, Salaun G, Salse J, Véronèse L, Tchirkov A
Clin Chim Acta 2023 Nov 1;551:117594. Epub 2023 Oct 12 doi: 10.1016/j.cca.2023.117594. PMID: 37832906
Singh Y, Lakshminrusimha S
Clin Perinatol 2021 Aug;48(3):573-594. doi: 10.1016/j.clp.2021.05.008. PMID: 34353581
Watkins VY, O'Donnell CM, Perez M, Zhao P, England S, Carter EB, Kelly JC, Frolova A, Raghuraman N
Am J Obstet Gynecol 2021 Oct;225(4):437.e1-437.e8. Epub 2021 Jun 1 doi: 10.1016/j.ajog.2021.05.036. PMID: 34081895Free PMC Article
Bakker MK, Bergman JEH, Krikov S, Amar E, Cocchi G, Cragan J, de Walle HEK, Gatt M, Groisman B, Liu S, Nembhard WN, Pierini A, Rissmann A, Chidambarathanu S, Sipek A Jr, Szabova E, Tagliabue G, Tucker D, Mastroiacovo P, Botto LD
BMJ Open 2019 Jul 2;9(7):e028139. doi: 10.1136/bmjopen-2018-028139. PMID: 31270117Free PMC Article

Diagnosis

Goumy C, Guy Ouedraogo Z, Soler G, Eymard-Pierre E, Laurichesse H, Delabaere A, Gallot D, Bouchet P, Perthus I, Pebrel-Richard C, Gouas L, Salaun G, Salse J, Véronèse L, Tchirkov A
Clin Chim Acta 2023 Nov 1;551:117594. Epub 2023 Oct 12 doi: 10.1016/j.cca.2023.117594. PMID: 37832906
Graf WD, Cohen BH, Kalsner L, Pearl PL, Sarnat HB, Epstein LG; Ethics Committee of the Child Neurology Society
Dev Med Child Neurol 2023 Jul;65(7):900-907. Epub 2023 Feb 2 doi: 10.1111/dmcn.15528. PMID: 36732680
Singh Y, Lakshminrusimha S
Clin Perinatol 2021 Aug;48(3):573-594. doi: 10.1016/j.clp.2021.05.008. PMID: 34353581
Bakker MK, Bergman JEH, Krikov S, Amar E, Cocchi G, Cragan J, de Walle HEK, Gatt M, Groisman B, Liu S, Nembhard WN, Pierini A, Rissmann A, Chidambarathanu S, Sipek A Jr, Szabova E, Tagliabue G, Tucker D, Mastroiacovo P, Botto LD
BMJ Open 2019 Jul 2;9(7):e028139. doi: 10.1136/bmjopen-2018-028139. PMID: 31270117Free PMC Article
Hoeldtke NJ, Calhoun BC
Am J Obstet Gynecol 2001 Sep;185(3):525-9. doi: 10.1067/mob.2001.116093. PMID: 11568772

Therapy

Shreeve N, Sproule C, Choy KW, Dong Z, Gajewska-Knapik K, Kilby MD, Mone F
Ultrasound Obstet Gynecol 2024 Jan;63(1):15-23. doi: 10.1002/uog.27491. PMID: 37725747
Raitio A, Heiskanen S, Syvänen J, Leinonen MK, Kemppainen T, Löyttyniemi E, Ahonen M, Gissler M, Helenius I
J Bone Joint Surg Am 2023 Jul 19;105(14):1087-1092. Epub 2023 May 22 doi: 10.2106/JBJS.22.01370. PMID: 37216430
Lockman S, Brummel SS, Ziemba L, Stranix-Chibanda L, McCarthy K, Coletti A, Jean-Philippe P, Johnston B, Krotje C, Fairlie L, Hoffman RM, Sax PE, Moyo S, Chakhtoura N, Stringer JS, Masheto G, Korutaro V, Cassim H, Mmbaga BT, João E, Hanley S, Purdue L, Holmes LB, Momper JD, Shapiro RL, Thoofer NK, Rooney JF, Frenkel LM, Amico KR, Chinula L, Currier J; IMPAACT 2010/VESTED Study Team and Investigators
Lancet 2021 Apr 3;397(10281):1276-1292. doi: 10.1016/S0140-6736(21)00314-7. PMID: 33812487Free PMC Article
Chappell LC, Bell JL, Smith A, Linsell L, Juszczak E, Dixon PH, Chambers J, Hunter R, Dorling J, Williamson C, Thornton JG; PITCHES study group
Lancet 2019 Sep 7;394(10201):849-860. Epub 2019 Aug 1 doi: 10.1016/S0140-6736(19)31270-X. PMID: 31378395Free PMC Article
Grynberg M, Bidet M, Benard J, Poulain M, Sonigo C, Cédrin-Durnerin I, Polak M
Fertil Steril 2016 Jan;105(1):13-9. Epub 2015 Dec 8 doi: 10.1016/j.fertnstert.2015.11.042. PMID: 26677790

Prognosis

Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M
Ultrasound Obstet Gynecol 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. PMID: 37289939
Raitio A, Heiskanen S, Syvänen J, Leinonen MK, Kemppainen T, Löyttyniemi E, Ahonen M, Gissler M, Helenius I
J Bone Joint Surg Am 2023 Jul 19;105(14):1087-1092. Epub 2023 May 22 doi: 10.2106/JBJS.22.01370. PMID: 37216430
Dempsey AG, Chavis L, Willis T, Zuk J, Cole JCM
J Clin Psychol Med Settings 2021 Mar;28(1):125-136. doi: 10.1007/s10880-020-09728-2. PMID: 32472343
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883
Wyldes M, Watkinson M
Arch Dis Child Fetal Neonatal Ed 2004 Jan;89(1):F9-13. doi: 10.1136/fn.89.1.f9. PMID: 14711845Free PMC Article

Clinical prediction guides

Goumy C, Guy Ouedraogo Z, Soler G, Eymard-Pierre E, Laurichesse H, Delabaere A, Gallot D, Bouchet P, Perthus I, Pebrel-Richard C, Gouas L, Salaun G, Salse J, Véronèse L, Tchirkov A
Clin Chim Acta 2023 Nov 1;551:117594. Epub 2023 Oct 12 doi: 10.1016/j.cca.2023.117594. PMID: 37832906
Drukker L, Sharma H, Karim JN, Droste R, Noble JA, Papageorghiou AT
Ultrasound Obstet Gynecol 2022 Dec;60(6):759-765. doi: 10.1002/uog.24975. PMID: 35726505Free PMC Article
Watkins VY, O'Donnell CM, Perez M, Zhao P, England S, Carter EB, Kelly JC, Frolova A, Raghuraman N
Am J Obstet Gynecol 2021 Oct;225(4):437.e1-437.e8. Epub 2021 Jun 1 doi: 10.1016/j.ajog.2021.05.036. PMID: 34081895Free PMC Article
Erenel H, Aydogan Mathyk B, Sal V, Ayhan I, Karatas S, Koc Bebek A
Arch Gynecol Obstet 2017 Jan;295(1):45-50. Epub 2016 Sep 2 doi: 10.1007/s00404-016-4188-5. PMID: 27589848
Désilets V, Oligny LL; Genetics Committee of the Society of Obstetricians and Gynaecology Canada; Family Physicians Advisory Committee; Medico–Legal Committee of the SOGC
J Obstet Gynaecol Can 2011 Oct;33(10):1047-57. PMID: 22014783

Recent systematic reviews

Shreeve N, Sproule C, Choy KW, Dong Z, Gajewska-Knapik K, Kilby MD, Mone F
Ultrasound Obstet Gynecol 2024 Jan;63(1):15-23. doi: 10.1002/uog.27491. PMID: 37725747
Theroux R, Violette C
J Perinat Neonatal Nurs 2023 Oct-Dec 01;37(4):310-324. doi: 10.1097/JPN.0000000000000752. PMID: 37878516
Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M
Ultrasound Obstet Gynecol 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. PMID: 37289939
Wilpers A, Bahtiyar MO, Stitelman D, Batten J, Calix RX, Chase V, Yung N, Maassel N, Novick G
Am J Obstet Gynecol MFM 2021 May;3(3):100320. Epub 2021 Jan 23 doi: 10.1016/j.ajogmf.2021.100320. PMID: 33493706
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883

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