Neonatologie Scan, Table of Contents Neonatologie Scan 2014; 03(02): 151-167DOI: 10.1055/s-0034-1365420 Fortbildung © Georg Thieme Verlag KG Stuttgart · New York Spina bifida aperta: Diagnostik und minimalinvasive pränatale Therapie Thomas Kohl , Anastasiia Khaleeva Recommend Article Abstract Buy Article Full Text References Literatur 1 Adzick NS. Fetal myelomeningocele: natural history, pathophysiology, and in-utero intervention. Semin Fetal Neonatal Med 2010; 15: 9-14 2 Parker SE, Yazdy MM, Mitchell AA et al. A description of spina bifida cases and co-occurring malformations, 1976–2011. Am J Med Genet A 2014; 164: 432-440 3 Boulet SL, Yang Q, Mai C et al. Trends in the postfortification prevalence of spina bifida and anencephaly in the United States. Birth Defects Res A Clin Mol Teratol 2008; 82: 527-532 4 Trudell AS, Odibo AO. Diagnosis of spina bifida on ultrasound: Always termination?. Best Pract Res Clin Obstet Gynaecol 2013; 12: 1521-6934 5 Williams LJ, Mai CT, Edmonds LD et al. Prevalence of spina bifida and anencephaly during the transition to mandatory folic acid fortification in the United States. Teratology 2002; 66: 33-39 6 MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the medical research council vitamin study. Lancet 1991; 338: 131-137 7 Agopian AJ, Tinker SC, Lupo PJ et al. Proportion of neural tube defects attributable to known risk factors. Birth Defects Res A Clin Mol Teratol 2013; 97: 42-46 8 Werler MM, Ahrens KA, Bosco JL et al. A Use of antiepileptic medications in pregnancy in relation to risks of birth defects. Ann Epidemiol 2011; 21: 842-850 9 Hernández-Díaz S, Werler MM, Walker AM et al. Neural tube defects in relation to use of folic acid antagonists during pregnancy. Am J Epidemiol 2001; 153: 961-968 10 Babcook CJ, Goldstein RB, Filly RA. Prenatally detected fetal myelomeningocele: is karyotype analysis warranted?. Radiology 1995; 194: 491-494 11 Sunden B. On the diagnostic value of ultrasound in obstetrics and gynaecology. Acta Obstet Gynecol Scand 1964; 43: 1-191 12 Sohn C, Holzgreve W. Ultraschall in Gynäkologie und Geburtshilfe. In: Scharf A. Skelett- und Muskelsystem. Stuttgart: Thieme; 2013: 264-317 13 Thomas M. The lemon sign. Radiology 2003; 228: 206-207 14 D'Addario V, Rossi AC, Pinto V et al. Comparison of six sonographic signs in the prenatal diagnosis of spina bifida. J Perinat Med 2008; 36: 330-334 15 Nicolaides KH, Campbell S, Gabbe SG et al. Ultrasound screening for spina bifida: cranial and cerebral signs. Lancet 1986; 2: 72-74 16 McLone DG, Dias MS. The Chiari II malformation: cause and impact. Childs Nerv Syst 2003; 19: 540-550 17 Bernard JP, Cuckle HS, Stirnemann JJ et al. Screening for fetal spina bifida by ultrasound examination in the first trimester of pregnancy using fetal biparietal diameter. Am J Obstet Gynecol 2012; 207: 306.e1-5 18 Chaoui R, Benoit B, Mitkowska-Wozniak H et al. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11-13-week scan. Ultrasound Obstet Gynecol 2009; 34: 249-252 19 Chaoui R, Nicolaides KH. From nuchal translucency to intracranial translucency: towards the early detection of spina bifida. Ultrasound Obstet Gynecol 2010; 35: 133-138 20 Buyukkurt S, Binokay F, Seydaoglu G et al. Prenatal determination of the upper lesion level of spina bifida with three-dimensional ultrasound. Fetal Diagn Ther 2013; 33: 36-40 21 Mangels KJ, Tulipan N, Tsao LY et al. Fetal MRI in the evaluation of intrauterine myelomeningocele. Pediatr Neurosurg 2000; 32: 124-131 22 Bernard JP, Cuckle HS, Bernard MA et al. Combined screening for open spina bifida at 11-13 weeks using fetal biparietal diameter and maternal serum markers. Am J Obstet Gynecol 2013; 209: 223.e1-5 23 Mazur JM, Shurtleff D, Menelaus M et al. Orthopaedic management of high-level spina bifida. Early walking compared with early use of a wheelchair. J Bone Joint Surg Am 1989; 71: 56-61 24 Stein R, Schröder A, Beetz R et al. Urologische Erkrankungen bei Patienten mit Meningomyelozele. Diagnostik und Management. Urologe A 2007; 46: 1620-1642 25 Werhagen L, Gabrielsson H, Westgren N et al. Medical complication in adults with spina bifida. Clin Neurol Neurosurg 2013; 115: 1226-1229 26 Kryger JV, González R, Barthold JS. Surgical management of urinary incontinence in children with neurogenic sphincteric incompetence. J Urol 2000; 163: 256-263 27 Lemelle JL, Guillemin F, Aubert D et al. A multicenter evaluation of urinary incontinence management and outcome in spina bifida. J Urol 2006; 175: 208-212 28 Messing-Jünger M, Röhrig A. Primary and secondary management of the Chiari II malformation in children with myelomeningocele. Childs Nerv Syst 2013; 29: 1553-1562 29 Aschoff A, Kremer P, Hashemi B et al. The scientific history of hydrocephalus and its treatment. Neurosurg Rev 1999; 22: 67-93 30 Messing-Jünger M, Röhrig A. Primary and secondary management of the Chiari II malformation in children with myelomeningocele. Childs Nerv Syst 2013; 29: 1553-1562 31 Swaroop VT, Dias L. Orthopedic management of spina bifida. Part I: hip, knee, and rotational deformities. J Child Orthop 2009; 3: 441-449 32 Özek MM, Cinalli G, Maixner WJ. Spina bifida Management and Outcome. In: Özek MM, Erol B, Tama IJ. Management of Vertebral Problems and Deformities. Milan: Springer; 2008: 305-318 33 Özek MM, Cinalli G, Maixner WJ. Spina bifida Management and Outcome. In: Bowman RM, McLone DG. Tethered Cord in Children with Spina Bifida. Milan: Springer; 2008: 267-274 34 Meuli M, Meuli-Simmen C, Hutchins GM et al. The spinal cord lesion in human fetuses with myelomeningocele: implications for fetal surgery. Pediatr Surg 1997; 32: 448-452 35 McLone DG, Knepper PA. The cause of Chiari II malformation: a unified theory. Pediatr Neurosci 1989; 15: 1-12 36 Encinas JL, García-Cabezas MÁ, Barkovich J et al. Maldevelopment of the cerebral cortex in the surgically induced model of myelomeningocele: implications for fetal neurosurgery. J Pediatr Surg 2011; 46: 713-722 37 Adzick NS, Thom EA, Spong CY et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med 2011; 364: 993-1004 38 Heffez DS, Aryanpur J, Hutchins GM et al. The paralysis associated with myelomeningocele: clinical and experimental data implicating a preventable spinal cord injury. Neurosurgery 1990; 26: 987-992 39 Selauki M, Manning S, Bernfield M. The curly tail mouse model of human neural tube defects demonstrates normal spinal cord differentiation at the level of the myelomeningocele: implications for fetal surgery. Child’s Nerv System 2001; 17: 19-23 40 Kohl T. Stool contamination. J Neurosurg Pediatr 2010; 5: 422 41 Meuli M, Meuli-Simmen C, Yingling CD et al. Creation of myelomeningocele in utero: A model of functional damage from spinal cord exposure in fetal sheep. J Pediatr Surg 1995; 30: 1028-1033 42 Correia-Pinto J, Reis JL, Hutchins GM et al. In utero meconium exposure increases spinal cord necrosis in a rat model of myelomeningocele. J Pediatr Surg 2002; 37: 488-492 43 Drewek MJ, Bruner JP, Whetsell WO et al. Quantitative analysis of the toxicity of human amniotic fluid to cultured rat spinal cord. Pediatr Neurosurg 1997; 27: 190-193 44 Danzer E, Zhang L, Radu A et al. Amniotic fluid levels of glial fibrillary acidic protein in fetal rats with retinoic acid induced myelomeningocele: a potential marker for spinal cord injury. Am J Obstet Gynecol 2011; 204: 178.e1-11 45 Meuli M, Meuli-Simmen C, Yingling CD et al. In utero repair of experimental myelomeningocele saves neurological function at birth. J Pediatr Surg 1996; 31: 397-402 46 Korenromp MJ, Van Gool JD, Bruinese HW et al. Early fetal leg movements in myelomeningocele. Lancet 1986; 1: 917-918 47 Sival DA, Begeer JH, Staal-Schreinemachers AL et al. Perinatal motor behaviour and neurological outcome in spina bifida aperta. Early Hum Dev 1997; 50: 27-37 48 Warsof SL, Abramowicz JS, Sayegh SK et al. Lower limb movements and urologic function in fetuses with neural tube and other central nervous system defects. Fetal Ther 1988; 3: 129-134 49 Adzick NS, Sutton LN, Crombleholme TM et al. Successful fetal surgery for spina bifida. Lancet 1998; 352: 1675-1676 50 Adzick NS. Fetal Surgery for Myelomeningocele: Trials and Tribulations. J Pediatr Surg 2012; 47: 273-281 51 Kohl T, Tchatcheva K, Weinbach J et al. Partial amniotic carbon dioxide insufflation (PACI) during minimally invasive fetoscopic surgery: early clinical experience in humans. Surg Endosc 2010; 24: 432-444 52 Herrera SR, Leme RJ, Valente PR et al. Comparison between two surgical techniques for prenatal correction of meningomyelocele in sheep. Einstein (Sao Paulo) 2012; 10: 455-461 53 Tulipan N, Hernanz-Schulman M, Lowe LH et al. Intrauterine myelomeningocele repair reverses preexisting hindbrain herniation. Pediatr Neurosurg 1999; 31: 137-142 54 Verbeek RJ, Heep A, Maurits NM et al. Fetal endoscopic myelomeningocele closure preserves segmental neurological function. Developmental Medicine & Child Neurology 2012; 54: 15-22 55 Shurtleff D. Fetal endoscopic myelomeningocele repair. Dev Med Child Neurol 2012; 54: 4-5 56 Kohl T. Supporting the Achilles Heel of Fetal Surgery – Ultrasound-guided placement of Membranous-Defect-Coverage-Devices (MDCD) during minimally-invasive fetoscopic surgery for spina bifida is associated with prolonged gestation and a lower rate of chorioamnionitis. Ultraschall in Med 2013; 34: WS_SL22_08 57 Degenhardt J, Schürg R, Winarno A et al. Percutaneous minimally-invasive fetoscopic surgery für spina bifida aperta – Part II Maternal management and outcome. Ultrasound Obstet Gynecol 2014; 21 Epub ahead of print 58 Kohl T. Minimally invasive fetoscopic interventions: an overview in 2010. Surg Endosc 2010; 24: 2056-2067 59 Degenhardt J, Khaleeva A, Encensberger C et al. Pre-operative assessment of ventricular size and ventricle-to-hemisphere area ratio permits estimation of the need for ventriculo-peritoneal shunt insertion during the first three months of postnatal life in fetuses before fetoscopic surgery for spina bifida aperta. Ultraschall in Med 2013; 34: PS6_02 60 Dey F, Neubauer B, Kohl T et al. Serial assessment of lower extremity motor function over the first 12 months of life in infants that underwent minimally-invasive fetoscopic surgery for spina bifida aperta at the University Hospital of Giessen-Marburg 2010 – 2013. Ultraschall in Med 2013; 34: WS_SL22_07 61 Lee NG, Gomez P, Uberoi V et al. In utero closure of myelomeningocele does not improve lower urinary tract function. J Urol 2012; 188: 1567-1571 62 Clayton DB, Tanaka ST, Trusler L et al. Long-term urological impact of fetal myelomeningocele closure. J Urol 2011; 186: 1581-1585 63 Koh CJ, DeFilippo RE, Borer JG et al. Bladder and external urethral sphincter function after prenatal closure of myelomeningocele. J Urol 2006; 176: 2232-2236