neural tube defect
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Pathology
- most common neural tube defects are open spina bifida (myelomeningocele) & anencephaly
Genetics
- susceptibility to folate-sensitive neural tube defects is associated with defects in MTR, MTHFR, MTHFD1
- genetic defects in MTR & MTHFD1 may affect the risk of spina bifida via the maternal rather than the embryonic genotype
- genetic variations in protein T are associated with susceptibility to neural tube defects[4]
Laboratory
Management
Prevention:
- folic acid 0.8-1 mg PO QD (begin 3 months before conception)
- little evidence that recommendation is working[1]
- avoid hot tubs during 1st trimester of pregnancy
- maternal temperature > 38.5 C increases risk of neural tube defects[2]
More general terms
More specific terms
- anencephaly
- craniorachischisis
- encephalocele
- lipomyelomeningocele
- porencephaly
- tethered spinal cord syndrome (occult spinal dysraphism sequence)
Additional terms
References
- ↑ 1.0 1.1 Journal Watch 25(11):87-88, 2005 Botto LD, Lisi A, Robert-Gnansia E, Erickson JD, Vollset SE, Mastroiacovo P, Botting B, Cocchi G, de Vigan C, de Walle H, Feijoo M, Irgens LM, McDonnell B, Merlob P, Ritvanen A, Scarano G, Siffel C, Metneki J, Stoll C, Smithells R, Goujard J. International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working? BMJ. 2005 Mar 12;330(7491):571. Epub 2005 Feb 18. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/15722368 <Internet> http://bmj.bmjjournals.com/cgi/content/full/330/7491/571
- ↑ 2.0 2.1 Suarez L et al, The effect of fever, febrile illness, and heat exposures on the risk of neural tube defects in a Texas-Mexico border population. Birth Defects Res A Clin Mol Teratol 70:815, 2005 PMID: https://www.ncbi.nlm.nih.gov/pubmed/15468073
- ↑ OMIM https://mirror.omim.org/entry/601634
- ↑ 4.0 4.1 OMIM https://mirror.omim.org/entry/182940