Neuralrohrdefekte

Inzidenz und Epidemiologie

Neuralrohrdefekte (NTD) stellen nach Herzfehlbildungen die zweithäufigste kongenitale Anomalie dar (circa 1,5/1000 Schwangerschaften) [1].

Die Inzidenz von NTD ist sehr variabel und von ethnischen und geographischen Faktoren abhängig. Sowohl Spina bifida als auch Anenzephalus treten häufiger in der weißen Bevölkerung auf [2]. Die pränatale Bestimmung von Alpha-Fetoprotein (AFP) zusammen mit der präkonzeptionellen Supplementierung von Folsäure haben zu einer signifikanten Verringerung von Neugeborenen mit NTD geführt [3].

Literatur

• 1 Koletzko B, Kries R von. Prevention of neural tube defects by folic acid administration in early pregnancy. Joint recommendations of the German Society of Nutrition, Gynecology and Obstetrics, Human Genetics, Pediatrics. Society of Neuropediatrics.  Gynakol Geburtshilfl Rundsch. 1995;  35 2-5
• 2 Harmon J P, Hiett A K, Palmer C G, Golichowski A M. Prenatal ultrasound detection of isolated neural tube defects: is cytogenetic evaluation warranted?.  Obstet Gynecol. 1995;  86 595-599
• 3 Klusmann A, Heinrich B, Stopler H. et al . A decreasing rate of neural tube defects following the recommendations for periconceptional folic acid supplementation.  Acta Paediatr. 2005;  94 1538-1542
• 4 Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects.  Congenit Anom (Kyoto). 2006;  46 55-67
• 5 Northrup H, Volcik K A. Spina bifida and other neural tube defects.  Curr Probl Pediatr. 2000;  30 313-332
• 6 Mitchell L E. Epidemiology of neural tube defects.  Am J Med Genet C Semin Med Genet. 2005;  135 88-94
• 7 Nau H. Valproic acid-induced neural tube defects.  Ciba Found Symp. 1994;  181 144-152 , discussion 52-60
• 8 Shaw G M, Todoroff K, Velie E M, Lammer E J. Maternal illness, including fever and medication use as risk factors for neural tube defects.  Teratology. 1998;  57 1-7
• 9 Watkins M L, Rasmussen S A, Honein M A. et al . Maternal obesity and risk for birth defects.  Pediatrics. 2003;  111 1152-1158
• 10 Windham G C, Bjerkedal T, Sever L E. The association of twinning and neural tube defects: studies in Los Angeles, California, and Norway.  Acta Genet Med Gemellol (Roma). 1982;  31 165-172
• 11 Cowchock S, Ainbender E, Prescott G. et al . The recurrence risk for neural tube defects in the United States: a collaborative study.  Am J Med Genet. 1980;  5 309-314
• 12 Czeizel A, Metneki J. Recurrence risk after neural tube defects in a genetic counselling clinic.  J Med Genet. 1984;  21 413-416
• 13 . The infant with anencephaly. The Medical Task Force on Anencephaly.  N Engl J Med. 1990;  322 669-674
• 14 Sepulveda W, Corral E, Ayala C. et al . Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound.  Ultrasound Obstet Gynecol. 2004;  23 352-356
• 15 Wald N J, Hackshaw A D, Stone R, Sourial N A. Blood folic acid and vitamin B₁₂ in relation to neural tube defects.  Br J Obstet Gynaecol. 1996;  103 319-324
• 16 Perenc M, Dudarewicz L, Kaluzewski B. Utility of the triple test in the detection of abnormalities of the feto-placental unit.  Med Sci Monit. 2000;  6 994-999
• 17 Evans M I, Llurba E, Landsberger E J. et al . Impact of folic acid fortification in the United States: markedly diminished high maternal serum alpha-fetoprotein values.  Obstet Gynecol. 2004;  103 474-479
• 18 Norem C T, Schoen E J, Walton D L. et al . Routine ultrasonography compared with maternal serum alpha-fetoprotein for neural tube defect screening.  Obstet Gynecol. 2005;  106 747-752
• 19 Wald N, Cuckle H, Nanchahal K. Amniotic fluid acetylcholinesterase measurement in the prenatal diagnosis of open neural tube defects. Second report of the Collaborative Acetylcholinesterase Study.  Prenat Diagn. 1989;  9 813-829
• 20 Mulinare J, Cordero J F, Erickson J D, Berry R J. Periconceptional use of multivitamins and the occurrence of neural tube defects.  Jama. 1988;  260 3141-3145
• 21 . Use of dietary supplements containing folic acid among women of childbearing age - United States, 2005.  MMWR Morb Mortal Wkly Rep. 2005;  54 955-958
• 22 Wilson R D, Davies G, Desilets V. et al . The use of folic acid for the prevention of neural tube defects and other congenital anomalies.  J Obstet Gynaecol Can. 2003;  25 959-973
• 23 Walsh D S, Adzick N S, Sutton L N, Johnson M P. The rationale for in utero repair of myelomeningocele.  Fetal Diagn Ther. 2001;  16 312-322
• 24 Bruner J P, Tulipan N. Intrauterine repair of spina bifida.  Clin Obstet Gynecol. 2005;  48 942-955
• 25 Kohl T, Hering R, Heep A. et al . Percutaneous fetoscopic patch coverage of spina bifida aperta in the human - early clinical experience and potential.  Fetal Diagn Ther. 2006;  21 185-193
• 26 Lingman G. Management of pregnancy and labour in cases diagnosed with major fetal malformation.  Curr Opin Obstet Gynecol. 2005;  17 143-146
• 27 Michael T, Moers A von, Strehl A E. Spina bifida. 1 ed. Berlin: Gruyter; 1998
• 28 Rekate H L. To shunt or not to shunt: hydrocephalus and dysraphism.  Clin Neurosurg. 1985;  32 593-607