Classification, clinical features, and genetics of neural tube defects

Neural tube defects (NTDs) constitute a major health burden (0.5-2/1000 pregnancies worldwide), and remain a preventable cause of still birth, neonatal, and infant death, or significant lifelong handicaps. The malformations result from failure of the neural folds to fuse in the midline, and form the...

Full description

Saved in:
Bibliographic Details
Published inSaudi medical journal Vol. 35 Suppl 1; no. Suppl 1; pp. S5 - S14
Main Authors Salih, Mustafa A, Murshid, Waleed R, Seidahmed, Mohammed Z
Format Journal Article
LanguageEnglish
Published Saudi Arabia Saudi Medical Journal 01.12.2014
Subjects
Consanguinity
Humans
Infant, Newborn
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Neural Tube Defects - classification
Neural Tube Defects - diagnosis
Neural Tube Defects - genetics
Review
Online AccessGet full text

Cover

More Information
Summary:Neural tube defects (NTDs) constitute a major health burden (0.5-2/1000 pregnancies worldwide), and remain a preventable cause of still birth, neonatal, and infant death, or significant lifelong handicaps. The malformations result from failure of the neural folds to fuse in the midline, and form the neural tube between the third and the fourth week of embryonic development. This review article discusses their classification, clinical features, and genetics. Most NTDs are sporadic and both genetic, and non-genetic environmental factors are involved in its etiology. Consanguinity was suggested to contribute to the high incidence of NTDs in several countries, including Saudi Arabia. Syndromes, often associated with chromosomal anomalies, account for <10% of all NTDs; but a higher proportion (20%) has been documented in Saudi Arabia. Genetic predisposition constitutes the major underlying risk factor, with a strong implication of genes that regulate folate one-carbon metabolism and planar cell polarity.
ISSN:0379-5284
1658-3175