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Abnormal fetal gastrointestinal system morphology

MedGen UID:
1814358
•Concept ID:
C5676794
•
Congenital Abnormality
HPO: HP:0034207

Definition

An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [from HPO]

Professional guidelines

PubMed

Prenatal diagnosis of abdominal lymphatic malformations.
Liu YP, Huang YL, Tsai PS, Lin DC, Chen CP
Taiwan J Obstet Gynecol 2021 Jan;60(1):13-19. doi: 10.1016/j.tjog.2020.11.003. PMID: 33494985
Genetic counseling for fetal gastrointestinal anomalies.
Schindewolf E, Moldenhauer JS
Curr Opin Obstet Gynecol 2020 Apr;32(2):134-139. doi: 10.1097/GCO.0000000000000613. PMID: 32039977
Prenatal diagnosis and management of congenital diaphragmatic hernia.
Basurto D, Russo FM, Van der Veeken L, Van der Merwe J, Hooper S, Benachi A, De Bie F, Gomez O, Deprest J
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:93-106. Epub 2019 Jan 5 doi: 10.1016/j.bpobgyn.2018.12.010. PMID: 30772144

Recent clinical studies

Etiology

Fetal Micro and Macroglossia: Defining Normal Fetal Tongue Size.
Koren N, Shust-Barequet S, Weissbach T, Raviv O, Abu Snenh S, Abraham E, Cahan T, Eisenberg V, Yulzari V, Hadi E, Adamo L, Mazaki Tovi S, Achiron R, Kivilevitch Z, Weisz B, Kassif E
J Ultrasound Med 2023 Jan;42(1):59-70. Epub 2022 Apr 9 doi: 10.1002/jum.15983. PMID: 35396717
Understanding gastroschisis and its clinical management: where are we?
Haddock C, Skarsgard ED
Expert Rev Gastroenterol Hepatol 2018 Apr;12(4):405-415. Epub 2018 Feb 16 doi: 10.1080/17474124.2018.1438890. PMID: 29419329
Correlation between fetal autopsy and prenatal diagnosis by ultrasound: A systematic review.
Rossi AC, Prefumo F
Eur J Obstet Gynecol Reprod Biol 2017 Mar;210:201-206. Epub 2016 Dec 29 doi: 10.1016/j.ejogrb.2016.12.024. PMID: 28061423
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M
Semin Pediatr Surg 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. PMID: 20610192
Prenatal effects of alcohol.
Abel EL
Drug Alcohol Depend 1984 Sep;14(1):1-10. doi: 10.1016/0376-8716(84)90012-7. PMID: 6386408

Diagnosis

Intestinal Atresias.
Rich BS, Bornstein E, Dolgin SE
Pediatr Rev 2022 May 1;43(5):266-274. doi: 10.1542/pir.2021-005177. PMID: 35490204
Developmental basis of trachea-esophageal birth defects.
Edwards NA, Shacham-Silverberg V, Weitz L, Kingma PS, Shen Y, Wells JM, Chung WK, Zorn AM
Dev Biol 2021 Sep;477:85-97. Epub 2021 May 21 doi: 10.1016/j.ydbio.2021.05.015. PMID: 34023332Free PMC Article
Exencephaly-anencephaly Sequence.
Society for Maternal-Fetal Medicine, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B5-B8. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.176. PMID: 33168213
Genetic counseling for fetal gastrointestinal anomalies.
Schindewolf E, Moldenhauer JS
Curr Opin Obstet Gynecol 2020 Apr;32(2):134-139. doi: 10.1097/GCO.0000000000000613. PMID: 32039977
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article

Therapy

The Role of TNF-α and Anti-TNF-α Agents during Preconception, Pregnancy, and Breastfeeding.
Romanowska-Próchnicka K, Felis-Giemza A, Olesińska M, Wojdasiewicz P, Paradowska-Gorycka A, Szukiewicz D
Int J Mol Sci 2021 Mar 13;22(6) doi: 10.3390/ijms22062922. PMID: 33805757Free PMC Article
Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Understanding gastroschisis and its clinical management: where are we?
Haddock C, Skarsgard ED
Expert Rev Gastroenterol Hepatol 2018 Apr;12(4):405-415. Epub 2018 Feb 16 doi: 10.1080/17474124.2018.1438890. PMID: 29419329
Impact of fetal alcohol exposure on body systems: A systematic review.
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Prenatal effects of alcohol.
Abel EL
Drug Alcohol Depend 1984 Sep;14(1):1-10. doi: 10.1016/0376-8716(84)90012-7. PMID: 6386408

Prognosis

The Role of TNF-α and Anti-TNF-α Agents during Preconception, Pregnancy, and Breastfeeding.
Romanowska-Próchnicka K, Felis-Giemza A, Olesińska M, Wojdasiewicz P, Paradowska-Gorycka A, Szukiewicz D
Int J Mol Sci 2021 Mar 13;22(6) doi: 10.3390/ijms22062922. PMID: 33805757Free PMC Article
Genetic counseling for fetal gastrointestinal anomalies.
Schindewolf E, Moldenhauer JS
Curr Opin Obstet Gynecol 2020 Apr;32(2):134-139. doi: 10.1097/GCO.0000000000000613. PMID: 32039977
The ontogeny of Robin sequence.
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M
Semin Pediatr Surg 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. PMID: 20610192

Clinical prediction guides

Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.
Boer LL, Morava E, Klein WM, Schepens-Franke AN, Oostra RJ
Birth Defects Res 2017 Jun 1;109(10):791-804. Epub 2017 May 16 doi: 10.1002/bdr2.1049. PMID: 28509418
Correlation between fetal autopsy and prenatal diagnosis by ultrasound: A systematic review.
Rossi AC, Prefumo F
Eur J Obstet Gynecol Reprod Biol 2017 Mar;210:201-206. Epub 2016 Dec 29 doi: 10.1016/j.ejogrb.2016.12.024. PMID: 28061423
Denonvilliers' fascia revisited.
Kim JH, Kinugasa Y, Hwang SE, Murakami G, Rodríguez-Vázquez JF, Cho BH
Surg Radiol Anat 2015 Mar;37(2):187-97. Epub 2014 Jul 10 doi: 10.1007/s00276-014-1336-0. PMID: 25008480
Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.
Brosens E, Ploeg M, van Bever Y, Koopmans AE, IJsselstijn H, Rottier RJ, Wijnen R, Tibboel D, de Klein A
Eur J Med Genet 2014 Aug;57(8):440-52. Epub 2014 Jun 13 doi: 10.1016/j.ejmg.2014.05.009. PMID: 24931924
Prenatal effects of alcohol.
Abel EL
Drug Alcohol Depend 1984 Sep;14(1):1-10. doi: 10.1016/0376-8716(84)90012-7. PMID: 6386408

Recent systematic reviews

Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.
Powel JE, Sham CE, Spiliopoulos M, Ferreira CR, Rosenthal E, Sinkovskaya ES, Brown S, Jelin AC, Al-Kouatly HB
Clin Genet 2022 Oct;102(4):262-287. Epub 2022 Jul 21 doi: 10.1111/cge.14188. PMID: 35802600Free PMC Article
Correlation between fetal autopsy and prenatal diagnosis by ultrasound: A systematic review.
Rossi AC, Prefumo F
Eur J Obstet Gynecol Reprod Biol 2017 Mar;210:201-206. Epub 2016 Dec 29 doi: 10.1016/j.ejogrb.2016.12.024. PMID: 28061423
Fetal megacystis: A systematic review.
Taghavi K, Sharpe C, Stringer MD
J Pediatr Urol 2017 Feb;13(1):7-15. Epub 2016 Oct 8 doi: 10.1016/j.jpurol.2016.09.003. PMID: 27889224
Impact of fetal alcohol exposure on body systems: A systematic review.
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Gastroschisis: antenatal sonographic predictors of adverse neonatal outcome.
Page R, Ferraro ZM, Moretti F, Fung KF
J Pregnancy 2014;2014:239406. Epub 2014 Dec 22 doi: 10.1155/2014/239406. PMID: 25587450Free PMC Article

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