Syndromes, disorders and maternal risk factors associated with neural tube defects (II).
Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as Currarino syndrome, sacral defect with anterior meningocele, Jarcho-Levin syndrome (spondylocostal dysostosis), lateral meningocele syndrome, neurofibromatosis type I, Marfan syndrome, and hyperthermia. 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 non-syndromic multifactorial NTDs. Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.
Chen
Chih-Ping
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
D000013:Congenital Abnormalities; D005260:Female; D005334:Fever; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D008588:Meningocele / Q000145:classification / Q000150:complications*; D009436:Neural Tube Defects / Q000209:etiology* / Q000235:genetics*; D017253:Neurofibromatoses / Q000150:complications*; D011247:Pregnancy; D012307:Risk Factors; D013577:Syndrome; D016216:Ultrasonography, Prenatal