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Isolated anencephaly

MedGen UID:
992686
•Concept ID:
CN312530
•
Disease or Syndrome
Synonym: isolated anencephaly
 
Monarch Initiative: MONDO:0035401
Orphanet: ORPHA563609

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated anencephaly

Professional guidelines

PubMed

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Palomaki GE, Bupp C, Gregg AR, Norton ME, Oglesbee D, Best RG; ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee
Genet Med 2020 Mar;22(3):462-474. Epub 2019 Nov 8 doi: 10.1038/s41436-019-0681-0. PMID: 31700163
Practice Bulletin No. 187: Neural Tube Defects.
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Evaluation of routine prenatal diagnosis by a registry of congenital anomalies.
Stoll C, Dott B, Alembik Y, Roth MP
Prenat Diagn 1995 Sep;15(9):791-800. doi: 10.1002/pd.1970150902. PMID: 8559748

Recent clinical studies

Etiology

Prevalence of open neural tube defects and risk factors related to isolated anencephaly and spina bifida in live births from the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Jalisco, Mexico).
Corona-Rivera JR, Olvera-Molina S, Pérez-Molina JJ, Aranda-Sánchez CI, Bobadilla-Morales L, Corona-Rivera A, Peña-Padilla C, Ruiz-Gómez A, Morales-Domínguez GE
Congenit Anom (Kyoto) 2021 Mar;61(2):46-54. Epub 2020 Nov 5 doi: 10.1111/cga.12399. PMID: 33118203
Maternal occupational exposure to ionizing radiation and major structural birth defects.
Lim H, Agopian AJ, Whitehead LW, Beasley CW, Langlois PH, Emery RJ, Waller DK; National Birth Defects Prevention Study
Birth Defects Res A Clin Mol Teratol 2015 Apr;103(4):243-54. Epub 2015 Mar 28 doi: 10.1002/bdra.23340. PMID: 25820072Free PMC Article
Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area.
Zhao H, Wang F, Wang J, Xie H, Guo J, Liu C, Wang L, Lu X, Bao Y, Wang G, Zhong R, Niu B, Zhang T
Gene 2012 Sep 1;505(2):340-4. Epub 2012 May 27 doi: 10.1016/j.gene.2012.05.035. PMID: 22647835
The incidence of neural tube defects in Norway and the Arkhangelskaja Oblast in Russia and the association with maternal age.
Petrova JG, Vaktskjold A
Acta Obstet Gynecol Scand 2009;88(6):667-72. doi: 10.1080/00016340902898008. PMID: 19353336
Etiologic heterogeneity of neural-tube defects.
Holmes LB, Driscoll SG, Atkins L
N Engl J Med 1976 Feb 12;294(7):365-9. doi: 10.1056/NEJM197602122940704. PMID: 1107843

Diagnosis

The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24----pter).
Singer N, Gersen S, Warburton D
Prenat Diagn 1987 Oct;7(8):567-71. doi: 10.1002/pd.1970070807. PMID: 3317387

Therapy

Maternal occupational exposure to ionizing radiation and major structural birth defects.
Lim H, Agopian AJ, Whitehead LW, Beasley CW, Langlois PH, Emery RJ, Waller DK; National Birth Defects Prevention Study
Birth Defects Res A Clin Mol Teratol 2015 Apr;103(4):243-54. Epub 2015 Mar 28 doi: 10.1002/bdra.23340. PMID: 25820072Free PMC Article

Prognosis

Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area.
Zhao H, Wang F, Wang J, Xie H, Guo J, Liu C, Wang L, Lu X, Bao Y, Wang G, Zhong R, Niu B, Zhang T
Gene 2012 Sep 1;505(2):340-4. Epub 2012 May 27 doi: 10.1016/j.gene.2012.05.035. PMID: 22647835
The incidence of neural tube defects in Norway and the Arkhangelskaja Oblast in Russia and the association with maternal age.
Petrova JG, Vaktskjold A
Acta Obstet Gynecol Scand 2009;88(6):667-72. doi: 10.1080/00016340902898008. PMID: 19353336

Clinical prediction guides

Maternal occupational exposure to ionizing radiation and major structural birth defects.
Lim H, Agopian AJ, Whitehead LW, Beasley CW, Langlois PH, Emery RJ, Waller DK; National Birth Defects Prevention Study
Birth Defects Res A Clin Mol Teratol 2015 Apr;103(4):243-54. Epub 2015 Mar 28 doi: 10.1002/bdra.23340. PMID: 25820072Free PMC Article
Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area.
Zhao H, Wang F, Wang J, Xie H, Guo J, Liu C, Wang L, Lu X, Bao Y, Wang G, Zhong R, Niu B, Zhang T
Gene 2012 Sep 1;505(2):340-4. Epub 2012 May 27 doi: 10.1016/j.gene.2012.05.035. PMID: 22647835
The incidence of neural tube defects in Norway and the Arkhangelskaja Oblast in Russia and the association with maternal age.
Petrova JG, Vaktskjold A
Acta Obstet Gynecol Scand 2009;88(6):667-72. doi: 10.1080/00016340902898008. PMID: 19353336

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    Clinical resources

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