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Open neural tube defect

MedGen UID:
1814385
Concept ID:
C5676821
Congenital Abnormality
HPO: HP:0034237

Definition

A type of neural tube defect that is not covered by skin. [from HPO]

Professional guidelines

PubMed

Isaacs AE, Mladucky JK, Dent KM, Wallace LA
J Genet Couns 2022 Dec;31(6):1317-1329. Epub 2022 Jul 6 doi: 10.1002/jgc4.1606. PMID: 35794694
Wagner W, Schwarz M, Perneczky A
Curr Opin Urol 2002 Nov;12(6):465-8. doi: 10.1097/00042307-200211000-00003. PMID: 12409873
Niermeijer MF, Sachs ES, Jahodova M, Tichelaar-Klepper C, Kleijer WJ, Galjaard H
J Med Genet 1976 Jun;13(3):182-94. doi: 10.1136/jmg.13.3.182. PMID: 58990Free PMC Article

Recent clinical studies

Etiology

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
Lee JY, Kim JW, Shim Y, Kim SP, Kim KH, Yang J, Kim SK, Wang KC
Childs Nerv Syst 2022 Nov;38(11):2091-2099. Epub 2022 Jul 12 doi: 10.1007/s00381-022-05591-8. PMID: 35821435
Schulz LN, Tecle NE, Cleary R, Mercier P
Childs Nerv Syst 2020 Apr;36(4):869-871. Epub 2020 Feb 5 doi: 10.1007/s00381-019-04454-z. PMID: 32025870
Trudell AS, Odibo AO
Best Pract Res Clin Obstet Gynaecol 2014 Apr;28(3):367-77. Epub 2013 Dec 3 doi: 10.1016/j.bpobgyn.2013.10.006. PMID: 24373566
Krantz DA, Hallahan TW, Sherwin JE
Clin Lab Med 2010 Sep;30(3):721-5. Epub 2010 Jun 15 doi: 10.1016/j.cll.2010.04.010. PMID: 20638584

Diagnosis

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
Guerrero J, Heller DS, de Leon AB
Fetal Pediatr Pathol 2021 Oct;40(5):501-504. Epub 2020 Jan 27 doi: 10.1080/15513815.2020.1716282. PMID: 31986946
Schulz LN, Tecle NE, Cleary R, Mercier P
Childs Nerv Syst 2020 Apr;36(4):869-871. Epub 2020 Feb 5 doi: 10.1007/s00381-019-04454-z. PMID: 32025870
Trudell AS, Odibo AO
Best Pract Res Clin Obstet Gynaecol 2014 Apr;28(3):367-77. Epub 2013 Dec 3 doi: 10.1016/j.bpobgyn.2013.10.006. PMID: 24373566
Krantz DA, Hallahan TW, Sherwin JE
Clin Lab Med 2010 Sep;30(3):721-5. Epub 2010 Jun 15 doi: 10.1016/j.cll.2010.04.010. PMID: 20638584

Therapy

Lee SY, Papanna R, Farmer D, Tsao K
Clin Perinatol 2022 Dec;49(4):835-848. Epub 2022 Oct 9 doi: 10.1016/j.clp.2022.06.004. PMID: 36328602
Schulz LN, Tecle NE, Cleary R, Mercier P
Childs Nerv Syst 2020 Apr;36(4):869-871. Epub 2020 Feb 5 doi: 10.1007/s00381-019-04454-z. PMID: 32025870
Belfort MA, Whitehead WE, Shamshirsaz AA, Espinoza J, Nassr AA, Lee TC, Olutoye OO, Keswani SG, Sanz Cortes M
Ultrasound Obstet Gynecol 2020 Oct;56(4):532-540. doi: 10.1002/uog.21915. PMID: 31709658
Belfort MA, Whitehead WE, Shamshirsaz AA, Bateni ZH, Olutoye OO, Olutoye OA, Mann DG, Espinoza J, Williams E, Lee TC, Keswani SG, Ayres N, Cassady CI, Mehollin-Ray AR, Sanz Cortes M, Carreras E, Peiro JL, Ruano R, Cass DL
Obstet Gynecol 2017 Apr;129(4):734-743. doi: 10.1097/AOG.0000000000001941. PMID: 28277363
Trudell AS, Odibo AO
Best Pract Res Clin Obstet Gynaecol 2014 Apr;28(3):367-77. Epub 2013 Dec 3 doi: 10.1016/j.bpobgyn.2013.10.006. PMID: 24373566

Prognosis

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
Didier RA, Martin-Saavedra JS, Oliver ER, DeBari SE, Bilaniuk LT, Howell LJ, Moldenhauer JS, Adzick NS, Heuer GG, Coleman BG
AJNR Am J Neuroradiol 2020 Oct;41(10):1923-1929. Epub 2020 Sep 17 doi: 10.3174/ajnr.A6745. PMID: 32943419Free PMC Article
Jnah AJ, Newberry DM, England A
Adv Neonatal Care 2015 Aug;15(4):261-8. doi: 10.1097/ANC.0000000000000209. PMID: 26225594
Krantz DA, Hallahan TW, Sherwin JE
Clin Lab Med 2010 Sep;30(3):721-5. Epub 2010 Jun 15 doi: 10.1016/j.cll.2010.04.010. PMID: 20638584
Shaer CM, Chescheir N, Schulkin J
Obstet Gynecol Surv 2007 Jul;62(7):471-9. doi: 10.1097/01.ogx.0000268628.82123.90. PMID: 17572919

Clinical prediction guides

King BC, Hagan J, Corroenne R, Shamshirsaz AA, Espinoza J, Nassr AA, Whitehead W, Belfort MA, Sanz Cortes M
Ultrasound Obstet Gynecol 2021 Aug;58(2):230-237. Epub 2021 Jul 13 doi: 10.1002/uog.22089. PMID: 32438507
Didier RA, Martin-Saavedra JS, Oliver ER, DeBari SE, Bilaniuk LT, Howell LJ, Moldenhauer JS, Adzick NS, Heuer GG, Coleman BG
AJNR Am J Neuroradiol 2020 Oct;41(10):1923-1929. Epub 2020 Sep 17 doi: 10.3174/ajnr.A6745. PMID: 32943419Free PMC Article
Kohn JR, Rao V, Sellner AA, Sharhan D, Espinoza J, Shamshirsaz AA, Whitehead WE, Belfort MA, Sanz Cortes M
Obstet Gynecol 2018 Jun;131(6):1062-1068. doi: 10.1097/AOG.0000000000002577. PMID: 29742660
Elgamal EA, Hassan HH, Elwatidy SM, Altwijri I, Alhabib AF, Jamjoom ZB, Murshid WR, Salih MA
Saudi Med J 2014 Dec;35 Suppl 1(Suppl 1):S44-8. PMID: 25551111Free PMC Article
Krantz DA, Hallahan TW, Sherwin JE
Clin Lab Med 2010 Sep;30(3):721-5. Epub 2010 Jun 15 doi: 10.1016/j.cll.2010.04.010. PMID: 20638584

Recent systematic reviews

Nassr AA, Hessami K, Shazly SA, Meshinchi N, Corroenne R, Espinoza J, Donepudi R, Sanz Cortes M, Belfort MA, Shamshirsaz AA
Ultrasound Obstet Gynecol 2021 Sep;58(3):347-353. doi: 10.1002/uog.23588. PMID: 33428299
Bauer DF, Beier AD, Nikas DC, Assassi N, Blount J, Durham SR, Flannery AM, Klimo P Jr, McClung-Smith C, Rehring P, Tamber MS, Tyagi R, Mazzola CA
Neurosurgery 2019 Sep 1;85(3):E409-E411. doi: 10.1093/neuros/nyz263. PMID: 31418040

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