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Spina bifida

delete2004-11-01
delete464
PRE
AI
L
Laura E. Mitchell
N
N. Scott Adzick
J
Jeanne Melchionne
P
Patrick S. Pasquariello
L
Leslie N. Sutton
A
Alexander S. Whitehead
DOI:10.1016/S0140-6736(04)17445-Xdelete
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Abstract

Abstract

En 中文
Spina bifida results from failure of fusion of the caudal neural tube, and is one of the most common malformations of human structure. The causes of this disorder are heterogeneous and include chromosome abnormalities, single gene disorders, and teratogenic exposures. However, the cause is not known in most cases. Up to 70% of spina bifida cases can be prevented by maternal, periconceptional folic acid supplementation. The mechanism underlying this protective effect is unknown, but it is likely to include genes that regulate folate transport and metabolism. Individuals with spina bifida need both surgical and medical management. Although surgical closure of the malformation is generally done in the neonatal period, a randomised clinical trial to assess in utero closure of spina bifida has been initiated in the USA. Medical management is a lifelong necessity for individuals with spina bifida, and should be provided by a multidisciplinary team.
Keywords:
NEURAL-TUBE DEFECTS
INTRAUTERINE MYELOMENINGOCELE REPAIR
FOLIC-ACID ANTAGONISTS
RISK-FACTOR
METHYLENETETRAHYDROFOLATE REDUCTASE
5,10-METHYLENETETRAHYDROFOLATE REDUCTASE
FETAL SURGERY
BIRTH-DEFECTS
IN-UTERO
HUMAN T
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Journal

The Lancet cover
The Lancet
IF:
88.5
Papers:
5.4W
Citations:
34.8W

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