Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 2 , Pages 131-140, June 2008

Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (III)

  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Biotechnology, Asia University, Taipei, Taiwan
    • School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taipei, 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 March 2008.

Article Outline

Summary 

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 multi facto rial 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. [Taiwan J Obstet Cynecol 2008;47(2):131-140]

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

No full text is available. To read the body of this article, please view the PDF online.

 

Back to Article Outline

References 

  1. McGahan JP , Pilu G , Nyberg DA . Neural tube defects and the spine . In:  Nyberg DA ,  McGahan JP ,  Pretorius DH ,  Pilu G editor. Diagnostic Imaging of Fetal Anomalies . Philadelphia: Lippincott Williams & Wilkins; 2003;p. 291–334
  2. Calzolari E , Bianchi F , Dolk H , Stone D , Milan M . Are omphalocele and neural tube defects related congenital anomalies? Data from 21 registries in Europe (EUROCAT) . Am J Med Genet . 1997;72:79–84
  3. Mills JL , Druschel CM , Pangilinan F , et al.   Folate-related genes and omphalocele . Am J Med Genet A . 2005;136:8–11
  4. Soper RT , Kilger K . Vesico-intestinal fissure . J Urol . 1964;92:490–501
  5. Carey JC , Greenbaum B , Hall BD . The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects) . Birth Defects Orig Artic Ser . 1978;14:253–263
  6. Smith NM , Chambers HM , Furness ME , Haan EA . The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs . J Med Genet . 1992;29:730–732
  7. Lee DH , Cottrell JR , Sanders RC , Meyers CM , Wulfsberg EA , Sun CC . OEIS complex (omphalocele-exstrophyimperforate anus-spinal defects) in monozygotic twins . Am J Med Genet . 1999;84:29–33
  8. Keppler-Noreuil K , Gorton S , Foo F , Yankowitz J , Keegan C . Prenatal ascertainment of OEIS complex/cloacal exstrophy: 15 new cases and literature review . Am J Med Genet A . 2007;143:2122–2128
  9. Siebert JR , Rutledge JC , Kapur RP . Association of cloacal anomalies, caudal duplication, and twinning . Pediatr Dev Pathol . 2005;8:339–354
  10. Shanske AL, Pande S, Aref K, Vega-Rich C, Brion L, Reznik S, et al. Omphalocele-exstrophy-imperforate anusspinal defects (OEIS) in triplet pregnancy after IVF and CVS . Birth Defects Res A Clin Mol Teratol . 2003;67:467–471
  11. Noack F , Sayk F , Gembruch U . Omphalocoele-exstrophyimperforate anus-spinal defects complex in dizygotic twins . Fetal Diagn Ther . 2005;20:346–348
  12. Lin HJ , Ndiforchu F , Patell S . Exstrophy of the cloaca in a 47, XXX child: review of genitourinary malformations in triple-X patients . Am J Med Genet . 1993;45:761–763
  13. Lizcano-Gil LA , Garcia-Cruz D , Sanchez-Corona J . Omphalocele-exstrophy-imperforate-anus-spina bifida (OEIS) complex in a male prenatally exposed to diazepam . Arch Med Res . 1995;26:95–96
  14. Lynch SA , Bond PM , Copp AJ , et al.   A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36 . Nat Genet . 1995;11:93–95
  15. Nye JS , Hayes EA , Amendola M , et al.   Myelocystocelecloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies . Teratology . 2000;61:165–171
  16. Keppler-Noreuil KM . OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): a review of 14 cases . Am J Med Genet . 2001;99:271–279
  17. Martínez-Frías ML , Bermejo E , Rodriguez-Pinilla E , Frías JL . Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect . Am J Med Genet . 2001;99:261–269
  18. Thauvin-Robinet C , Faivre L , Cusin V , et al.   Cloacal exstrophy in an infant with 9q34.1–qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq . Am J Med Genet A . 2004;126:303–307
  19. Kosaki R , Fukuhara Y , Kosuga M , et al.   OEIS complex with del(3)(q12.2q13.2) . Am J Med Genet A . 2005;135:224–226
  20. Hertzberg BS , Nyberg DA , Neilsen IR . Ventral wall defects . In:  Nyberg DA ,  McGahan JP ,  Pretorius DH ,  Pilu G editor. Diagnostic Imaging of Fetal Anomalies . Philadelphia: Lippincott Williams & Wilkins; 2003;p. 507–546
  21. McLaughlin JF , Marks WM , Jones G . Prospective management of exstrophy of the cloaca and myelocystocele following prenatal ultrasound recognition of neural tube defects in identical twins . Am J Med Genet . 1984;19:721–727
  22. Meizner I , Bar-Ziv J . Prenatal ultrasonic diagnosis of cloacal exstrophy . Am J Obstet Gynecol . 1985;153:802–803
  23. Kutzner DK , Wilson WG , Hogge WA . OEIS complex (cloacal exstrophy): prenatal diagnosis in the second trimester . Prenat Diagn . 1988;8:247–253
  24. Chen CP , Shih SL , Liu FF , Jan SW , Jeng CJ , Lan CC . Perinatal features of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS complex) associated with large meningomyeloceles and severe limb defects . Am J Perinatol . 1997;14:275–279
  25. Girz BA , Sherer DM , Atkin J , Venanzi M , Ahlborn L , Cestone L . First-trimester prenatal sonographic findings associated with OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex: a case and review of the literature . Am J Perinatol . 1998;15:15–17
  26. Schemm S , Gembruch U , Germer U , Janig U , Jonat W , von Kaisenberg CS . Omphalocele-exstrophy-imperforate anusspinal defects (OEIS) complex associated with increased nuchal translucency . Ultrasound Obstet Gynecol . 2003;22:95–97
  27. Witters I , Deprest J , Van Hole C , Hanssens M , Devlieger H , Fryns JP . Anogenital malformation with ambiguous genitalia as part of the OEIS complex . Ultrasound Obstet Gynecol . 2004;24:797–798
  28. Wu JL , Fang KH , Yeh GP , Chou PH , Hsieh CT . Using color Doppler sonography to identify the perivesical umbilical arteries: a useful method in the prenatal diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex . J Ultrasound Med . 2004;23:1211–1215
  29. Vasudevan PC , Cohen MC , Whitby EH , Anumba DO , Quarrell OW . The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature . Prenat Diagn . 2006;26:267–272
  30. Ben-Neriah Z , Withers S , Thomas M , et al.   OEIS complex: prenatal ultrasound and autopsy findings . Ultrasound Obstet Gynecol . 2007;29:170–177
  31. Chen CP, Chang TY, Liu YP, et al. Prenatal ultrasound and magnetic resonance imaging findings of OEIS complex. J Clin Ultrasound 2008 (In press).
  32. Van Allen MI , Curry C , Walden CE , Gallagher L , Patten RM . Limb–body wall complex: II. Limb and spine defects . Am J Med Genet . 1987;28:549–565
  33. Cantrell JR , Haller JA , Ravitch MM . A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart . Surg Gynecol Obstet . 1958;107:602–604
  34. Kaplan LC , Matsuoka R , Gilbert EF , Opitz JM , Kurnit DM . Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac . Am J Med Genet . 1985;21:187–202
  35. Carmi R , Barbash A , Mares AJ . The thoracoabdominal syndrome (TAS): a new X-linked dominant disorder . Am J Med Genet . 1990;36:109–114
  36. Parvari R , Carmi R , Weissenbach J , Pilia G , Mumm S , Weinstein Y . Refined genetic mapping of X-linked thoracoabdominal syndrome . Am J Med Genet . 1996;61:401–402
  37. Soper SP , Roe LR , Hoyme HE , Clemmons JJ . Trisomy 18 with ectopia cordis, omphalocele, and ventricular septal defect: case report . Pediatr Pathol . 1986;5:481–483
  38. Bick D , Markowitz RI , Horwich A . Trisomy 18 associated with ectopia cordis and occipital meningocele . Am J Med Genet . 1988;30:805–810
  39. Egan JF , Petrikovsky BM , Vintzileos AM , Rodis JF , Campbell WM . Combined pentalogy of Cantrell and sirenomelia: a case report with speculation about a common etiology . Am J Perinatol . 1993;10:327–329
  40. Carmi R , Boughman JA . Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field . Am J Med Genet . 1992;42:90–95
  41. Toyama WM . Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: a case report and review of the syndrome . Pediatrics . 1972;50:778–792
  42. Spitz L , Bloom R , Milner S , Levin SE . Combined anterior abdominal wall, sternal, diaphragmatic, pericardial, and intracardiac defects: a report of five cases and their management . J Pediatr Surg . 1975;10:491–496
  43. Ghidini A , Sirtori M , Romero R , Hobbins JC . Prenatal diagnosis of pentalogy of Cantrell . J Ultrasound Med . 1988;7:567–572
  44. Reyes-Mugica M . Pentalogy of Cantrell, ectopia cordis, and frontonasal dysplasia . Am J Med Genet . 1992;44:540
  45. Hori A , Roessmann U , Eubel R , Ulbrich R , Dietrich-Schott B . Exencephaly in Cantrell-Haller-Ravitsch Syndrome . Acta Neuropathol . 1984;65:158–162
  46. Peer D , Moroder W , Delucca A . Prenatal diagnosis of the pentalogy of Cantrell combined with exencephaly and amniotic band syndrome . Ultraschall Med . 1993;14:94–95 [In German]
  47. Denath FM , Romano W , Solcz M , Donnelly D . Ultrasonographic findings of exencephaly in pentalogy of Cantrell: case report and review of the literature . J Clin Ultrasound . 1994;22:351–354
  48. Bognoni V , Quartuccio A , Quartuccio A . First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly . J Clin Ultrasound . 1999;27:276–278
  49. Polat I, Gül A, Aslan H, Cebeci A, Ozseker B, Caglar B, et al. Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis . J Clin Ultrasound . 2005;33:308–311
  50. Dane C , Dane B , Yayla M , Cetin A . Prenatal diagnosis of a case of pentalogy of Cantrell with spina bifida . J Postgrad Med . 2007;53:146–148
  51. Loureiro T , Oliveira C , Aroso J , Ferreira MJ , Vieira J . Prenatal sonographic diagnosis of a rare Cantrell's pentalogy variant with associated open neural tube defect: a case report . Fetal Diagn Ther . 2007;22:172–174
  52. Bianchi DW , Crombleholme TM , D'Alton ME . Amniotic band syndrome . In:  Bianchi DW ,  Crombleholme TM ,  D'Alton ME editor. Fetology: Diagnosis and Management of the Fetal Patient . New York: McGraw-Hill; 2000;p. 761–770
  53. Van Allen MI , Curry C , Walden CE , Gallagher L . Limb–body wall complex: I. Pathogenesis . Am J Med Genet . 1987;28:529–548
  54. Chen CP , Shih JC , Chan YJ . Prenatal diagnosis of limb–body wall complex using two- and three-dimensional ultrasound . Prenat Diagn . 2000;20:1020
  55. Chen CP . Prenatal diagnosis of limb–body wall complex with craniofacial defects, amniotic bands, adhesions and upper limb deficiency . Prenat Diagn . 2001;21:418–419
  56. Chen CP , Shih JC , Tzen CY , Wang W . Three-dimensional ultrasound in the evaluation of complex anomalies associated with fetal ventral midline defects . Ultrasound Obstet Gynecol . 2002;19:102–104
  57. Chen CP , Tzen CY , Chang TY , Yeh LF , Wang W . Prenatal diagnosis of acrania associated with facial defects, amniotic bands and limb–body wall complex . Ultrasound Obstet Gynecol . 2002;20:94–95
  58. Chen CP , Cheng SJ , Lin YH , Wang W . Prenatal imaging of limb–body wall complex by magnetic resonance imaging . Prenat Diagn . 2005;25:521–523
  59. Chen CP , Lin CJ , Chang TY , Hsu CY , Tzen CY , Wang W . Second-trimester diagnosis of limb–body wall complex with literature review of pathogenesis . Genet Couns . 2007;18:105–112
  60. Russo R , D'armiento M , Angrisani P , Vecchione R . Limb body wall complex: a critical review and a nosological proposal . Am J Med Genet . 1993;47:893–900
  61. Torpin R . Amniochorionic mesoblastic fibrous strings and amniotic bands . Am J Obstet Gynecol . 1965;91:65–75
  62. Herva R , Karkinen-Jaaskelainen M . Amniotic adhesion malformation syndrome: fetal and placental pathology . Teratology . 1984;29:11–19
  63. Hartwig NG , Vermeij-Keers CHR , de Vries HE , Kagie M , Kragt H . Limb body wall malformation complex . Hum Pathol . 1989;20:1071–1077
  64. Salonen R . The Meckel syndrome: clinicopathological findings in 67 patients . Am J Med Genet . 1984;18:671–689
  65. Kyttala M , Tallila J , Salonen R , et al.   MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome . Nat Genet . 2006;38:155–157
  66. Roume J , Genin E , Cormier-Daire V , et al.   A gene for Meckel syndrome maps to chromosome 11q13 . Am J Hum Genet . 1998;63:1095–1101
  67. Smith UM , Consugar M , Tee LJ , et al.   The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat . Nat Genet . 2006;38:191–196
  68. Baala L , Audollent S , Martinovic J , et al.   Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome . Am J Hum Genet . 2007;81:170–179
  69. Delous M , Baala L , Salomon R , et al.   The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome . Nat Genet . 2007;39:875–881
  70. Jones KL . Meckel-Gruber syndrome . In:  Jones KL editors. Smith's Recognizable Patterns of Human Malformation . Philadelphia: Elsevier Saunders; 2006;p. 18–19 114–5, 198, 204, 292–3.
  71. Paavola P , Salonen R , Weissenbach J , Peltonen L . The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21–q24 . Nat Genet . 1995;11:213–215
  72. Paavola P , Avela K , Horelli-Kuitunen N , et al.   High-resolution physical and genetic mapping of the critical region for Meckel syndrome and mulibrey nanism on chromosome 17q22–q23 . Genome Res . 1999;9:267–276
  73. Badano JL , Mitsuma N , Beales PL , Katsanis N . The ciliopathies: an emerging class of human genetic disorders . Annu Rev Genomics Hum Genet . 2006;7:125–148
  74. Kramer-Zucker AG , Olale F , Haycraft CJ , Yoder BK , Schier AF , Drummond IA . Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis . Development . 2005;132:1907–1921
  75. Nauli SM , Alenghat FJ , Luo Y , et al.   Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells . Nat Genet . 2003;33:129–137
  76. Blacque OE , Reardon MJ , Li C , et al.   Loss of C. elegans BBS7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport . Genes Dev . 2004;18:1630–1642
  77. Pazour GJ, Dickert BL, Vucica Y, Seeley ES, Rosenbaum JL, Witman GB, et al. Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella . J Cell Biol . 2000;151:709–718
  78. Gibson WT . The beat goes on: ciliary proteins are defective in Meckel syndrome . Clin Genet . 2006;69:400–401
  79. Ferrante MI , Zullo A , Barra A , et al.   Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification . Nat Genet . 2006;38:112–117
  80. Morgan NV , Gissen P , Sharif SM , et al.   A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24 . Hum Genet . 2002;111:456–461
  81. Nauta J , Goedbloed MA , Herck HV , et al.   New rat model that phenotypically resembles autosomal recessive polycystic kidney disease . J Am Soc Nephrol . 2000;11:2272–2284
  82. Gattone VH , Tourkow BA , Trambaugh CM , et al.   Development of multiorgan pathology in the wpk rat model of polycystic kidney disease . Anat Rec A Discov Mol Cell Evol Biol . 2004;277:384–395
  83. Frank V , den Hollander AI , Bruchle NO , et al.   Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome . Hum Mutat . 2008;29:45–52
  84. Guo J , Jin G , Meng L , et al.   Subcellullar localization of tumor-associated antigen 3H11Ag . Biochem Biophys Res Commun . 2004;324:922–930
  85. Valente EM , Silhavy JL , Brancati F , et al.   Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome . Nat Genet . 2006;38:623–625
  86. Brancati F , Barrano G , Silhavy JL , et al.   CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders . Am J Hum Genet . 2007;81:104–113
  87. Arts HH , Doherty D , van Beersum SE , et al.   Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome . Nat Genet . 2007;39:882–888
  88. Harris PC . Genetic complexity in Joubert syndrome and related disorders . Kidney Int . 2007;72:1421–1423
  89. Ferland RJ , Eyaid W , Collura RV , et al.   Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome . Nat Genet . 2004;36:1008–1013
  90. Parisi MA , Bennett CL , Eckert ML , et al.   The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome . Am J Hum Genet . 2004;75:82–91
  91. Baala L , Romano S , Khaddour R , et al.   The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome . Am J Hum Genet . 2007;80:186–194
  92. Sayer JA , Otto EA , O'Toole JF , et al.   The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 . Nat Genet . 2006;38:674–681
  93. Otto EA , Loeys B , Khanna H , et al.   Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin . Nat Genet . 2005;37:282–288
  94. Helou J , Otto EA , Attanasio M , et al.   Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome . J Med Genet . 2007;44:657–663
  95. Bronshtein M , Weiner Z . Anencephaly in a fetus with osteogenesis imperfecta: early diagnosis by transvaginal sonography . Prenat Diagn . 1992;12:831–834
  96. Ruano R, Picone O, Benachi A, Grebille AG, Martinovic J, Dumez Y, et al. First-trimester diagnosis of osteogenesis imperfecta associated with encephalocele by conventional and three-dimensional ultrasound . Prenat Diagn . 2003;23:539–542
  97. Jap-A-Joe SMEAA , Oostra RJ , Maas M , Stoker J , van der Horst CMAM . Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen . Am J Med Genet A . 2003;118:64–67
  98. Li D , Liao C , Ma X , Li Q , Tang X . Thanatophoric dysplasia type 2 with encephalocele during the second trimester . Am J Med Genet A . 2006;140:1476–1477
  99. Malguria NN , Merchant SA , Kiran KV , Verghese SL . Meckel-Gruber syndrome associated with short limbed dwarfism . J Postgrad Med . 1996;42:55–56
  100. Chen CP , Liu FF , Jan SW , Lin YN , Lan CC . A case of achondrogenesis type IA with an occipital encephalocele . Genet Couns . 1996;7:193–199
  101. Reece EA . In the search for genes responsible for neural tube defects, glucose metabolism matters . Reprod Sci . 2008;15:7–8
  102. Reece EA . Obesity, diabetes, and links to congenital defects: A review of the evidence and recommendations for intervention . J Matern Fetal Neonatal Med . 2008;21:173–180
  103. Pampfer S , Vanderheyden I , De Hertogh R . Increased synthesis of tumor necrosis factor-α in uterine explants from pregnant diabetic rats and in primary cultures of uterine cells in high glucose . Diabetes . 1997;46:1214–1224
  104. Reece EA . Maternal fuels, diabetic embryopathy: pathomechanisms and prevention . Semin Reprod Endocrinol . 1999;17:183–194
  105. Dhanasekaran N , Wu YK , Reece EA . Signaling pathways and diabetic embryopathy . Semin Reprod Endocrinol . 1999;17:167–174
  106. Reece EA , Ma XD , Zhao Z , Wu YK , Dhanasekaran D . Aberrant patterns of cellular communication in diabetesinduced embryopathy in rats: II, apoptotic pathways . Am J Obstet Gynecol . 2005;192:967–972
  107. Gäreskog M , Cederberg J , Eriksson UJ , Wentzel P . Maternal diabetes in vivo and high glucose concentration in vitro increases apoptosis in rat embryos . Reprod Toxicol . 2007;23:63–74
  108. Reece EA , Wu YK , Zhao Z , Dhanasekaran D . Dietary vitamin and lipid therapy rescues aberrant signaling and apoptosis and prevents hyperglycemia-induced diabetic embryopathy in rats . Am J Obstet Gynecol . 2006;194:580–585
  109. Reece EA , Ji I , Wu YK , Zhao Z . Characterization of differential gene expression profiles in diabetic embryopathy using DNA microarray analysis . Am J Obstet Gynecol . 2006;195:1075–1080
  110. Yang P , Zhao Z , Reece EA . Involvement of c-Jun N-terminal kinases activation in diabetic embryopathy . Biochem Biophys Res Commun . 2007;357:749–754
  111. Yang P , Zhao Z , Reece EA . Blockade of c-Jun N-terminal kinase activation abrogates hyperglycemia-induced yolk sac vasculopathy in vitro . Am J Obstet Gynecol . 2008;198:321.e1–321.e7
  112. Yang P , Zhao Z , Reece EA . Activation of oxidative stress signaling that is implicated in apoptosis with a mouse model of diabetic embryopathy . Am J Obstet Gynecol . 2008;198:130.e1–130.e7
  113. Heilig CW , Saunders T , Brosius FC , et al.   Glucose transporter-1-deficient mice exhibit impaired development and deformities that are similar to diabetic embryopathy . Proc Natl Acad Sci USA . 2003;100:15613–15618
  114. Davidson CM, Northrup H, King TM, Fletcher JM, Townsend I, Tyerman GH, et al. Genes in glucose metabolism and association with spina bifida . Reprod Sci . 2008;15:51–58
  115. Jensen PJ , Gitlin JD , Carayannopoulos MO . GLUT1 deficiency links nutrient availability and apoptosis during embryonic development . J Biol Chem . 2006;281:13382–13387
  116. Majewski N , Nogueira V , Bhaskar P , et al.   Hexokinasemitochondria interaction mediated by Akt is required to inhibit apoptosis in the presence or absence of Bax and Bak . Mol Cell . 2004;16:819–830
  117. Mansour E , Pereira FG , Araújo EP , et al.   Leptin inhibits apoptosis in thymus through a janus kinase-2independent, insulin receptor substrate-1/phosphatidylinositol-3 kinase-dependent pathway . Endocrinology . 2006;147:5470–5479

PII: S1028-4559(08)60070-4

doi:10.1016/S1028-4559(08)60070-4

Taiwanese Journal of Obstetrics and Gynecology
Volume 47, Issue 2 , Pages 131-140, June 2008

Article Tools