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neural tube defect
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:
- MTHFR gene mutation
Management:
Prevention:
1) folic acid 0.8-1 mg PO QD (begin 3 months before conception)
- little evidence that recommendation is working [1]
2) avoid hot tubs during 1st trimester of pregnancy
- maternal temperature > 38.5 C increases risk of neural tube defects [2]
Related
neural tube
prevention of neural tube defect
Specific
anencephaly
craniorachischisis
encephalocele
lipomyelomeningocele
porencephaly
tethered spinal cord syndrome (occult spinal dysraphism sequence)
General
central nervous system (CNS) malformation
Database Correlations
OMIM correlations
References
- 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.
PMID: 15722368
http://bmj.bmjjournals.com/cgi/content/full/330/7491/571
- 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: 15468073
- OMIM :accession 601634
- OMIM :accession 182940