Syndromes, disorders and maternal risk factors associated with neural tube defects (III).
Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal and fetal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal and fetal risk factors associated with NTDs, such as omphalocele, OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex, pentalogy of Cantrell, amniotic band sequence, limb-body wall complex, Meckel syndrome, Joubert syndrome, skeletal dysplasia, diabetic embryopathy, and single nucleotide polymorphisms in genes of glucose metabolism. NTDs associated with syndromes, disorders, and maternal and fetal 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 identification of NTDs should alert the clinician to the syndromes, disorders, and maternal and fetal 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
D000328:Adult; D000652:Amniotic Band Syndrome / Q000453:epidemiology; D000818:Animals; D001006:Anus, Imperforate / Q000453:epidemiology; D017209:Apoptosis / Q000502:physiology; D005260:Female; D005947:Glucose / Q000235:genetics; D006554:Hernia, Umbilical / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D009436:Neural Tube Defects / Q000453:epidemiology* / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011506:Proteins / Q000235:genetics; D012307:Risk Factors; D016135:Spinal Dysraphism / Q000453:epidemiology; D013577:Syndrome
C509165:MKS1 protein, human; D011506:Proteins; D005947:Glucose