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Incomplete anencephaly

MedGen UID:
86218
•Concept ID:
C0302356
•
Congenital Abnormality
Synonyms: Anencephalies, Partial; Anencephaly, Hemicranial; Anencephaly, Incomplete; Anencephaly, Partial; Hemicranial Anencephaly; Incomplete Anencephaly; Partial Anencephalies; Partial Anencephaly
SNOMED CT: Hemianencephaly (85641006); Incomplete anencephaly (359824007)

Professional guidelines

PubMed

Neural tube defects: a review of global prevalence, causes, and primary prevention.
Kancherla V
Childs Nerv Syst 2023 Jul;39(7):1703-1710. Epub 2023 Mar 8 doi: 10.1007/s00381-023-05910-7. PMID: 36882610
Prenatal diagnosis of holoprosencephaly.
Kousa YA, du Plessis AJ, Vezina G
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):206-213. Epub 2018 May 17 doi: 10.1002/ajmg.c.31618. PMID: 29770996
Practice Bulletin No. 187: Neural Tube Defects.
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

Recent clinical studies

Etiology

Prenatal diagnosis of craniorachischisis totalis.
Costa P, Fontoura Oliveira A, Baptista Vilaça A
BMJ Case Rep 2022 Apr 25;15(4) doi: 10.1136/bcr-2021-244682. PMID: 35470163Free PMC Article
The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature.
Munteanu O, Cîrstoiu MM, Filipoiu FM, Neamţu MN, Stavarache I, Georgescu TA, Bratu OG, Iorgulescu G, Bohîlţea RE
Rom J Morphol Embryol 2020 Apr-Jun;61(2):335-343. doi: 10.47162/RJME.61.2.03. PMID: 33544785Free PMC Article
Overview on neural tube defects: From development to physical characteristics.
Avagliano L, Massa V, George TM, Qureshy S, Bulfamante GP, Finnell RH
Birth Defects Res 2019 Nov 15;111(19):1455-1467. Epub 2018 Nov 12 doi: 10.1002/bdr2.1380. PMID: 30421543Free PMC Article
Iniencephaly.
Holmes LB, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):128-133. doi: 10.1002/bdr2.1082. PMID: 29377645
Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article

Diagnosis

Craniorachischisis with Exencephaly.
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
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
Overview on neural tube defects: From development to physical characteristics.
Avagliano L, Massa V, George TM, Qureshy S, Bulfamante GP, Finnell RH
Birth Defects Res 2019 Nov 15;111(19):1455-1467. Epub 2018 Nov 12 doi: 10.1002/bdr2.1380. PMID: 30421543Free PMC Article
Prenatal diagnosis of holoprosencephaly.
Kousa YA, du Plessis AJ, Vezina G
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):206-213. Epub 2018 May 17 doi: 10.1002/ajmg.c.31618. PMID: 29770996
Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article

Therapy

Neural tube defects: a review of global prevalence, causes, and primary prevention.
Kancherla V
Childs Nerv Syst 2023 Jul;39(7):1703-1710. Epub 2023 Mar 8 doi: 10.1007/s00381-023-05910-7. PMID: 36882610
Practice Bulletin No. 187: Neural Tube Defects.
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Neural tube defects.
Greene ND, Copp AJ
Annu Rev Neurosci 2014;37:221-42. doi: 10.1146/annurev-neuro-062012-170354. PMID: 25032496Free PMC Article
Neural tube defects: recent advances, unsolved questions, and controversies.
Copp AJ, Stanier P, Greene ND
Lancet Neurol 2013 Aug;12(8):799-810. Epub 2013 Jun 19 doi: 10.1016/S1474-4422(13)70110-8. PMID: 23790957Free PMC Article

Prognosis

A Shared Pathogenic Mechanism for Valproic Acid and SHROOM3 Knockout in a Brain Organoid Model of Neural Tube Defects.
Takla TN, Luo J, Sudyk R, Huang J, Walker JC, Vora NL, Sexton JZ, Parent JM, Tidball AM
Cells 2023 Jun 23;12(13) doi: 10.3390/cells12131697. PMID: 37443734Free PMC Article
Overview on neural tube defects: From development to physical characteristics.
Avagliano L, Massa V, George TM, Qureshy S, Bulfamante GP, Finnell RH
Birth Defects Res 2019 Nov 15;111(19):1455-1467. Epub 2018 Nov 12 doi: 10.1002/bdr2.1380. PMID: 30421543Free PMC Article
Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Ethical language and decision-making for prenatally diagnosed lethal malformations.
Wilkinson D, de Crespigny L, Xafis V
Semin Fetal Neonatal Med 2014 Oct;19(5):306-11. Epub 2014 Sep 5 doi: 10.1016/j.siny.2014.08.007. PMID: 25200733Free PMC Article
Pulmonary lymphangiectasia revisited.
Bouchard S, Di Lorenzo M, Youssef S, Simard P, Lapierre JG
J Pediatr Surg 2000 May;35(5):796-800. doi: 10.1053/jpsu.2000.6086. PMID: 10813353

Clinical prediction guides

National population-based estimates for major birth defects, 2016-2020.
Stallings EB, Isenburg JL, Rutkowski RE, Kirby RS, Nembhard WN, Sandidge T, Villavicencio S, Nguyen HH, McMahon DM, Nestoridi E, Pabst LJ; National Birth Defects Prevention Network
Birth Defects Res 2024 Jan;116(1):e2301. doi: 10.1002/bdr2.2301. PMID: 38277408Free PMC Article
Maternal Use of Specific Antidepressant Medications During Early Pregnancy and the Risk of Selected Birth Defects.
Anderson KN, Lind JN, Simeone RM, Bobo WV, Mitchell AA, Riehle-Colarusso T, Polen KN, Reefhuis J
JAMA Psychiatry 2020 Dec 1;77(12):1246-1255. doi: 10.1001/jamapsychiatry.2020.2453. PMID: 32777011Free PMC Article
Closing in on Mechanisms of Open Neural Tube Defects.
Lee S, Gleeson JG
Trends Neurosci 2020 Jul;43(7):519-532. Epub 2020 May 15 doi: 10.1016/j.tins.2020.04.009. PMID: 32423763Free PMC Article
National population-based estimates for major birth defects, 2010-2014.
Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle-Colarusso T, Cho SJ, Aggarwal D, Kirby RS; National Birth Defects Prevention Network
Birth Defects Res 2019 Nov 1;111(18):1420-1435. Epub 2019 Oct 3 doi: 10.1002/bdr2.1589. PMID: 31580536Free PMC Article
Folic acid supplementation for pregnant women and those planning pregnancy: 2015 update.
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article

Recent systematic reviews

Birth prevalence and risk factors of neural tube defects in Ethiopia: a systematic review and meta-analysis.
Tesfay N, Hailu G, Habtetsion M, Woldeyohannes F
BMJ Open 2023 Nov 7;13(11):e077685. doi: 10.1136/bmjopen-2023-077685. PMID: 37940152Free PMC Article
Global prevalence of congenital anencephaly: a comprehensive systematic review and meta-analysis.
Salari N, Fatahi B, Fatahian R, Mohammadi P, Rahmani A, Darvishi N, Keivan M, Shohaimi S, Mohammadi M
Reprod Health 2022 Oct 17;19(1):201. doi: 10.1186/s12978-022-01509-4. PMID: 36253858Free PMC Article
Tea consumption during the periconceptional period does not significantly increase the prevalence of neural tube defects: A systematic review and dose-response meta-analysis.
Yan K, Qie Z, Vásquez E, Guo F, Zhang L, Lin Z, Qin H
Nutr Res 2022 Jun;102:13-22. Epub 2022 Mar 7 doi: 10.1016/j.nutres.2022.02.009. PMID: 35366455
Prevalence of anencephaly in Africa: a systematic review and meta-analysis.
Oumer M, Kibret AA, Girma A, Tazebew A, Silamsaw M
Sci Rep 2021 Dec 9;11(1):23707. doi: 10.1038/s41598-021-02966-w. PMID: 34887455Free PMC Article
Effects of Neonicotinoid Pesticide Exposure on Human Health: A Systematic Review.
Cimino AM, Boyles AL, Thayer KA, Perry MJ
Environ Health Perspect 2017 Feb;125(2):155-162. Epub 2016 Jul 6 doi: 10.1289/EHP515. PMID: 27385285Free PMC Article

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