Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 3 , Pages 276-282, September 2008

Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VII)

  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Taiwan
    • Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Biotechnology, Asia University, Taiwan
    • School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan
    • Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan

Accepted 26 June 2008.

Article Outline

Summary 

Neural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher-Zweymüller syndrome, parietal foramina (cranium bifidum), Apert syndrome, craniomicromelic syndrome, XX-agonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.

Key Words:  congenital malformations , disorders , maternal risk factors , neural tube defects , syndromes

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PII: S1028-4559(08)60124-2

doi:10.1016/S1028-4559(08)60124-2

Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 3 , Pages 276-282, September 2008

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