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Neural tube defects, susceptibility to

MedGen UID:
979116
•Concept ID:
CN296782
•
Disease or Syndrome
Synonyms: neural tube defects; neural tube defects, susceptibility to; neural tube defects, SUSCEPTIBILITY to; NTD; spina bifida; spina bifida, susceptibility to
 
Monarch Initiative: MONDO:0020705

Professional guidelines

PubMed

Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population.
Richter B, Stegmann K, Röper B, Böddeker I, Ngo ET, Koch MC
J Hum Genet 2001;46(3):105-9. doi: 10.1007/s100380170096. PMID: 11310576

Recent clinical studies

Etiology

Nutrition and its role in human evolution.
James WPT, Johnson RJ, Speakman JR, Wallace DC, Frühbeck G, Iversen PO, Stover PJ
J Intern Med 2019 May;285(5):533-549. Epub 2019 Feb 17 doi: 10.1111/joim.12878. PMID: 30772945
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
Maternal obesity and pregnancy.
Satpathy HK, Fleming A, Frey D, Barsoom M, Satpathy C, Khandalavala J
Postgrad Med 2008 Sep 15;120(3):E01-9. doi: 10.3810/pgm.2008.09.1920. PMID: 18824817
Homocysteine.
Langman LJ, Cole DE
Crit Rev Clin Lab Sci 1999 Aug;36(4):365-406. doi: 10.1080/10408369991239231. PMID: 10486705

Diagnosis

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.
Martinez AF, Kruszka PS, Muenke M
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):246-257. Epub 2018 May 15 doi: 10.1002/ajmg.c.31616. PMID: 29761634Free PMC Article
Genetic Risk Factors for Folate-Responsive Neural Tube Defects.
Molloy AM, Pangilinan F, Brody LC
Annu Rev Nutr 2017 Aug 21;37:269-291. Epub 2017 Jun 19 doi: 10.1146/annurev-nutr-071714-034235. PMID: 28628360
Congenital Malformations Attributed to Prenatal Exposure to Cyclophosphamide.
Rengasamy P
Anticancer Agents Med Chem 2017;17(9):1211-1227. doi: 10.2174/1871520616666161206150421. PMID: 27924730
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
Spina bifida and other neural tube defects.
Northrup H, Volcik KA
Curr Probl Pediatr 2000 Nov-Dec;30(10):313-32. doi: 10.1067/mpp.2000.112052. PMID: 11147289

Therapy

Approaches to studying the genomic architecture of complex birth defects.
Taiwo TE, Cao X, Cabrera RM, Lei Y, Finnell RH
Prenat Diagn 2020 Aug;40(9):1047-1055. Epub 2020 Jun 29 doi: 10.1002/pd.5760. PMID: 32468575Free PMC Article
Genetic Risk Factors for Folate-Responsive Neural Tube Defects.
Molloy AM, Pangilinan F, Brody LC
Annu Rev Nutr 2017 Aug 21;37:269-291. Epub 2017 Jun 19 doi: 10.1146/annurev-nutr-071714-034235. PMID: 28628360
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
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

Neural tube defects: Sex ratio changes after fortification with folic acid.
Poletta FA, Rittler M, Saleme C, Campaña H, Gili JA, Pawluk MS, Gimenez LG, Cosentino VR, Castilla EE, López-Camelo JS
PLoS One 2018;13(3):e0193127. Epub 2018 Mar 14 doi: 10.1371/journal.pone.0193127. PMID: 29538416Free PMC Article
Is LMNB1 a susceptibility gene for neural tube defects in humans?
Robinson A, Partridge D, Malhas A, De Castro SC, Gustavsson P, Thompson DN, Vaux DJ, Copp AJ, Stanier P, Bassuk AG, Greene ND
Birth Defects Res A Clin Mol Teratol 2013 Jun;97(6):398-402. Epub 2013 Jun 3 doi: 10.1002/bdra.23141. PMID: 23733478Free PMC Article
Morphological spectrum of prenatal cerebellar disruptions.
Poretti A, Prayer D, Boltshauser E
Eur J Paediatr Neurol 2009 Sep;13(5):397-407. Epub 2008 Oct 22 doi: 10.1016/j.ejpn.2008.09.001. PMID: 18945628
Homocysteine, B-vitamins and CVD.
McNulty H, Pentieva K, Hoey L, Ward M
Proc Nutr Soc 2008 May;67(2):232-7. doi: 10.1017/S0029665108007076. PMID: 18412997
Apparent lability of neural tube closure in laboratory animals and humans.
DeSesso JM, Scialli AR, Holson JF
Am J Med Genet 1999 Nov 19;87(2):143-62. doi: 10.1002/(sici)1096-8628(19991119)87:2<143::aid-ajmg6>3.0.co;2-j. PMID: 10533029

Clinical prediction guides

Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back.
Wolujewicz P, Steele JW, Kaltschmidt JA, Finnell RH, Ross ME
Genesis 2021 Nov;59(11):e23459. Epub 2021 Oct 29 doi: 10.1002/dvg.23459. PMID: 34713546Free PMC Article
Genome-wide association studies of structural birth defects: A review and commentary.
Lupo PJ, Mitchell LE, Jenkins MM
Birth Defects Res 2019 Nov 1;111(18):1329-1342. Epub 2019 Oct 25 doi: 10.1002/bdr2.1606. PMID: 31654503Free PMC Article
Congenital Malformations Attributed to Prenatal Exposure to Cyclophosphamide.
Rengasamy P
Anticancer Agents Med Chem 2017;17(9):1211-1227. doi: 10.2174/1871520616666161206150421. PMID: 27924730
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
Coccygeal pits.
Weprin BE, Oakes WJ
Pediatrics 2000 May;105(5):E69. doi: 10.1542/peds.105.5.e69. PMID: 10799633

Recent systematic reviews

Association of Fetal MTHFR C677T Polymorphism with Susceptibility to Neural Tube Defects: A Systematic Review and Update Meta-Analysis.
Tabatabaei RS, Fatahi-Meibodi N, Meibodi B, Javaheri A, Abbasi H, Hadadan A, Bahrami R, Mirjalili SR, Karimi-Zarchi M, Neamatzadeh H
Fetal Pediatr Pathol 2022 Apr;41(2):225-241. Epub 2020 Jun 14 doi: 10.1080/15513815.2020.1775734. PMID: 32536242
Association between Fetal MTHFR A1298C (rs1801131) Polymorphism and Neural Tube Defects Risk: A Systematic Review and Meta-Analysis.
Soleimani-Jadidi S, Meibodi B, Javaheri A, Tabatabaei RS, Hadadan A, Zanbagh L, Abbasi H, Bahrami R, Mirjalili SR, Karimi-Zarchi M, Neamatzadeh H
Fetal Pediatr Pathol 2022 Feb;41(1):116-133. Epub 2020 Jun 14 doi: 10.1080/15513815.2020.1764682. PMID: 32536231
Geographical and ethnic distribution of MTHFR gene polymorphisms and their associations with diseases among Chinese population.
Yang B, Fan S, Zhi X, Xia R, Wang Y, Zheng Q, Sun G
Clin Genet 2017 Sep;92(3):243-258. Epub 2017 Mar 15 doi: 10.1111/cge.12929. PMID: 27888505
Influenza and congenital anomalies: a systematic review and meta-analysis.
Luteijn JM, Brown MJ, Dolk H
Hum Reprod 2014 Apr;29(4):809-23. Epub 2013 Dec 22 doi: 10.1093/humrep/det455. PMID: 24365800
Water chlorination and birth defects: a systematic review and meta-analysis.
Hwang BF, Jaakkola JJ
Arch Environ Health 2003 Feb;58(2):83-91. doi: 10.3200/AEOH.58.2.83-91. PMID: 12899208

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