Syndromes, disorders and maternal risk factors associated with neural tube defects (I).
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 acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and obesity. NTDs associated with 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 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; D048909:Diabetes Complications; D005260:Female; D005493:Folic Acid Antagonists; D005817:Genetic Counseling; D006801:Humans; D009436:Neural Tube Defects / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics*; D009765:Obesity / Q000150:complications*; D011247:Pregnancy; D012307:Risk Factors; D013577:Syndrome; D016216:Ultrasonography, Prenatal
D005493:Folic Acid Antagonists