Neuralrörsdefekter
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Sakkunnig:Martin Jägervall
- Fidas A1, MacDonald HL, et al. Prevalence and patterns of spina bifida occulta in 2707 normal adults. Clin Radiol. 1987 Sep;38(5):537-42. PMID: 3311565. PubMed
- Roberts HE, Moore CA, Cragan JD, Fernhoff PM, Khoury MJ. Impact of prenatal diagnosis on the birth prevalence of neural tube defects, Atlanta, 1990-1991. Pediatrics. 1995; 96: 880-3. PubMed
- Sliwerska E, Szpecht-Potocka A. Genetic risk factors of neural tube defects. Med Wieku Rozwoj 2002; 6: 349-70. PubMed
- Holmes LB. Spina bifida: anticonvulsants and other maternal influences. Ciba Found Symp 1994; 181: 232-8. PubMed
- Gos M Jr, Szpecht-Potocka A. Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism. J Appl Genet 2002; 43: 511-24. PubMed
- Gelineau-van Waes J, Finnell RH. Genetics of neural tube defects. Semin Pediatr Neurol 2001; 8: 160-4. PubMed
- Rasmussen SA, Chu SY, Kim SY, Schmid CH, Lau J. Maternal obesity and risk of neural tube defects: a metaanalysis. Am J Obstet Gynecol 2008; 198: 611-9. PubMed
- Analys av foster-DNA i kvinnans blod: icke-invasiv fosterdiagnostik (NIPT) för trisomi 13, 18 och 21. SBU Alert-rapport nr 2015-03. www.sbu.se
- Johnston LB, Borzyskowski M. Bladder dysfunction and neurological disability at presentation in closed spina bifida. Arch Dis Child 1998; 79: 33-38. PubMed
- Adzick NS, Walsh DS. Myelomeningocele: prenatal diagnosis, pathophysiology and management. Semin Pediatr Surg 2003; 12: 168-74. PubMed
- Tulipan N, Bruner JP. Myelomeningocele repair in utero: a report of three cases. Pediatr Neurosurg. 1998;28: 177-80. PubMed
- Bruner JP, Tulipan N, Paschall RL, Boehm FH, Walsh WF. Fetal surgery for myelomeningocele and the incidence of shunt-dependent hydrocephalus. JAMA. 1999; 282: 1819-25. PubMed
- Wagner W, Schwarz M, Perneczky A. Primary myelomeningocele closure and consequences. Curr Opin Urol 2002; 12: 465-8. PubMed
- Rendeli C, Ausili E, Tabacco F, et al. Polyethylene glycol 4000 vs. lactulose for the treatment of neurogenic constipation in myelomeningocele children: a randomized-controlled clinical trial. Aliment Pharmacol Ther 2006; 23: 1259-65. PubMed
- American Academy of Pediatrics. Committee on Genetics. Folic acid for the prevention of neural tube defects. Pediatrics. 1999; 104: 325-7. PubMed
- Lumley J, Watson L, Watson M, Bower C. Periconceptional supplementation with folate and/or multivitamins for preventing neural tube defects (Cochrane Review). The Cochrane Library, 2001; 3: CD001056. Cochrane (DOI)
- Ray JG, Meier C, Vermeulen MJ, Boss S, Wyatt PR et al. Association of neural tube defects and folic acid food fortification in Canada. Lancet 2002; 360: 2047-48. PubMed
- Botto LD, Lisi A, Robert-Gnansia E, et al. International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working?. BMJ 2005; 330: 571-3. PubMed
- Christiansen M, Garne E. Forebyggelse af neuralrørsdefekter ved perikonceptionelt tilskud af folinsyre i Europa. Ugeskr Læger 2005; 167: 2875-6. PubMed
- Gaston H. Ophthalmic complications of spina bifida and hydrocephalus. Eye 1991; 5: 279-90. PubMed
- Sneppen O, Bünger C, Hvid I (red.). Ortopædisk kirurgi. København: FADL, 2002.
- Martin Jägervall, överläkare, Barn- och ungdomskliniken, Centrallasarettet Växjö
Tidigare sakkunniga
- Bjørnar Grenne, Sørlandet sykehus HF Arendal