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Yang, C. Anencephaly. Encyclopedia. Available online: https://encyclopedia.pub/entry/4730 (accessed on 27 September 2026).
Yang C. Anencephaly. Encyclopedia. Available at: https://encyclopedia.pub/entry/4730. Accessed September 27, 2026.
Yang, Catherine. "Anencephaly" Encyclopedia, https://encyclopedia.pub/entry/4730 (accessed September 27, 2026).
Yang, C. (2020, December 24). Anencephaly. In Encyclopedia. https://encyclopedia.pub/entry/4730
Yang, Catherine. "Anencephaly." Encyclopedia. Web. 24 December, 2020.
Anencephaly
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/anencephaly

Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.

genetic conditions

References

  1. Au KS, Ashley-Koch A, Northrup H. Epidemiologic and genetic aspects of spinabifida and other neural tube defects. Dev Disabil Res Rev. 2010;16(1):6-15. doi: 10.1002/ddrr.93. Review.
  2. Bassuk AG, Kibar Z. Genetic basis of neural tube defects. Semin PediatrNeurol. 2009 Sep;16(3):101-10. doi: 10.1016/j.spen.2009.06.001. Review.
  3. Botto LD, Moore CA, Khoury MJ, Erickson JD. Neural-tube defects. N Engl J Med.1999 Nov 11;341(20):1509-19. Review.
  4. Copp AJ, Greene ND. Genetics and development of neural tube defects. J Pathol.2010 Jan;220(2):217-30. doi: 10.1002/path.2643. Review.
  5. Doudney K, Grinham J, Whittaker J, Lynch SA, Thompson D, Moore GE, Copp AJ,Greene ND, Stanier P. Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects. Am J Med Genet A. 2009Jul;149A(7):1585-9. doi: 10.1002/ajmg.a.32937.
  6. Greene ND, Stanier P, Copp AJ. Genetics of human neural tube defects. Hum Mol Genet. 2009 Oct 15;18(R2):R113-29. doi: 10.1093/hmg/ddp347. Review.
  7. Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidencefor MTHFR polymorphism testing. Genet Med. 2013 Feb;15(2):153-6. doi:10.1038/gim.2012.165.
  8. Levin BL, Varga E. MTHFR: Addressing Genetic Counseling Dilemmas UsingEvidence-Based Literature. J Genet Couns. 2016 Oct;25(5):901-11. doi:10.1007/s10897-016-9956-7.
  9. Obeidi N, Russell N, Higgins JR, O'Donoghue K. The natural history ofanencephaly. Prenat Diagn. 2010 Apr;30(4):357-60. doi: 10.1002/pd.2490.
  10. Wilson RD; SOGC GENETICS COMMITTEE; SPECIAL CONTRIBUTOR. Prenatal screening,diagnosis, and pregnancy management of fetal neural tube defects. J ObstetGynaecol Can. 2014 Oct;36(10):927-939. doi: 10.1016/S1701-2163(15)30444-8.Review.
  11. Yan L, Zhao L, Long Y, Zou P, Ji G, Gu A, Zhao P. Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects inoffsprings: evidence from 25 case-control studies. PLoS One. 2012;7(10):e41689.doi: 10.1371/journal.pone.0041689.
  12. Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G.Genetic variants in the folate pathway and the risk of neural tube defects: ameta-analysis of the published literature. PLoS One. 2013 Apr 4;8(4):e59570. doi:10.1371/journal.pone.0059570. Print 2013.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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