U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal neural tube morphology

MedGen UID:
1620065
•Concept ID:
C4531030
•
Anatomical Abnormality
HPO: HP:0410043

Definition

Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). [from HPO]

Professional guidelines

PubMed

Practice Bulletin No. 187: Neural Tube Defects.
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Cell-free DNA testing: an aid to prenatal sonographic diagnosis.
Chitty LS
Best Pract Res Clin Obstet Gynaecol 2014 Apr;28(3):453-66. Epub 2014 Jan 18 doi: 10.1016/j.bpobgyn.2014.01.002. PMID: 24594366
Prenatal neurologic anomalies: sonographic diagnosis and treatment.
De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843

Recent clinical studies

Etiology

Iniencephaly.
Holmes LB, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):128-133. doi: 10.1002/bdr2.1082. PMID: 29377645
Nutritional role of folate.
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Neural tube closure: cellular, molecular and biomechanical mechanisms.
Nikolopoulou E, Galea GL, Rolo A, Greene ND, Copp AJ
Development 2017 Feb 15;144(4):552-566. doi: 10.1242/dev.145904. PMID: 28196803Free PMC Article
Inositol, neural tube closure and the prevention of neural tube defects.
Greene ND, Leung KY, Copp AJ
Birth Defects Res 2017 Jan 30;109(2):68-80. doi: 10.1002/bdra.23533. PMID: 27324558Free PMC Article
Tethered cord syndrome: an updated review.
Lew SM, Kothbauer KF
Pediatr Neurosurg 2007;43(3):236-48. doi: 10.1159/000098836. PMID: 17409793

Diagnosis

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
Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.
Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article
Nutritional role of folate.
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Neural tube defects.
Kaufman BA
Pediatr Clin North Am 2004 Apr;51(2):389-419. doi: 10.1016/S0031-3955(03)00207-4. PMID: 15062676
Neuro-osteology.
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Therapy

Nutritional role of folate.
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Neural tube closure and embryonic metabolism.
Yamaguchi Y, Miyazawa H, Miura M
Congenit Anom (Kyoto) 2017 Sep;57(5):134-137. Epub 2017 May 31 doi: 10.1111/cga.12219. PMID: 28295633
Inositol, neural tube closure and the prevention of neural tube defects.
Greene ND, Leung KY, Copp AJ
Birth Defects Res 2017 Jan 30;109(2):68-80. doi: 10.1002/bdra.23533. PMID: 27324558Free PMC Article
Mitochondrial one-carbon metabolism and neural tube defects.
Momb J, Appling DR
Birth Defects Res A Clin Mol Teratol 2014 Aug;100(8):576-83. Epub 2014 Jul 1 doi: 10.1002/bdra.23268. PMID: 24985542
Neural tube defects.
Copp AJ
Trends Neurosci 1993 Oct;16(10):381-3. doi: 10.1016/0166-2236(93)90001-3. PMID: 7504349

Prognosis

Mouse Models of Neural Tube Defects.
Zohn IE
Adv Exp Med Biol 2020;1236:39-64. doi: 10.1007/978-981-15-2389-2_2. PMID: 32304068
Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.
Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article
Nervous System Malformations.
Gaitanis J, Tarui T
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):72-95. doi: 10.1212/CON.0000000000000561. PMID: 29432238Free PMC Article
Screening.
Evans MI, Krivchenia EL, Yaron Y
Best Pract Res Clin Obstet Gynaecol 2002 Oct;16(5):645-57. doi: 10.1053/beog.2002.0330. PMID: 12475545
Neuro-osteology.
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

Reduced H3K27me3 leads to abnormal Hox gene expression in neural tube defects.
Yu J, Wang L, Pei P, Li X, Wu J, Qiu Z, Zhang J, Ao R, Wang S, Zhang T, Xie J
Epigenetics Chromatin 2019 Dec 19;12(1):76. doi: 10.1186/s13072-019-0318-1. PMID: 31856916Free PMC Article
Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants.
Radford K, Taylor RC, Hall JG, Gick B
Birth Defects Res 2019 Jan 15;111(2):41-52. Epub 2018 Dec 10 doi: 10.1002/bdr2.1424. PMID: 30537250
Inositol, neural tube closure and the prevention of neural tube defects.
Greene ND, Leung KY, Copp AJ
Birth Defects Res 2017 Jan 30;109(2):68-80. doi: 10.1002/bdra.23533. PMID: 27324558Free PMC Article
Neuropathology of holoprosencephaly.
Marcorelles P, Laquerriere A
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):109-19. doi: 10.1002/ajmg.c.30249. PMID: 20104606
Screening.
Evans MI, Krivchenia EL, Yaron Y
Best Pract Res Clin Obstet Gynaecol 2002 Oct;16(5):645-57. doi: 10.1053/beog.2002.0330. PMID: 12475545

Recent systematic reviews

Split cord malformation concomitant with spinal teratoma without open spinal dysraphism.
Hazneci J, Bastacı F, Börekci A, Öztürk ÖÇ, İş M, Somay A, Ekşi MŞ, Çelikoğlu E
Childs Nerv Syst 2022 Oct;38(10):1977-1986. Epub 2022 Jun 10 doi: 10.1007/s00381-022-05578-5. PMID: 35687168
Perinatal outcomes of iatrogenic chorioamniotic separation following fetoscopic surgery: systematic review and meta-analysis.
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
Incidence of intraspinal abnormalities in congenital scoliosis: a systematic review and meta-analysis.
Wang X, Yu Y, Yang N, Xia L
J Orthop Surg Res 2020 Oct 21;15(1):485. doi: 10.1186/s13018-020-02015-8. PMID: 33087139Free PMC Article
Diprosopus: Systematic review and report of two cases.
Bidondo MP, Groisman B, Tardivo A, Tomasoni F, Tejeiro V, Camacho I, Vilas M, Liascovich R, Barbero P
Birth Defects Res A Clin Mol Teratol 2016 Dec;106(12):993-1007. Epub 2016 Oct 5 doi: 10.1002/bdra.23549. PMID: 27704687

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...