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Published in: Child's Nervous System 9/2013

01-09-2013 | Special Annual Issue

Prenatal diagnosis of spinal dysraphism

Authors: Liat Ben-Sira, Catherine Garel, Gustavo Malinger, Shlomi Constantini

Published in: Child's Nervous System | Issue 9/2013

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Abstract

Introduction

Since intrauterine repair of open spinal dysraphism have demonstrated promising results, it has become crucial to accurately define the various prenatal pathologies. The embryogenesis of spinal dysraphism according to a clinical neuroradiological classification is reviewed, with special emphasis on the recent advances in prenatal ultrasound (US), such as high-frequency linear transducers and three-dimensional imaging.

Fundings

The role of magnetic resonance imaging (MRI) of the fetus as a complementary tool for delineating complex fetal spinal anomalies and further defining associated central nervous system (CNS) anomalies is explored. Differentiation between normal appearance of the fetal spine and the wide range of congenital neural tube defects are demonstrated in both modalities with special emphasis on their complementary role in the accurate diagnosis of neural tube defects.
Literature
1.
go back to reference Colas JF, Schoenwolf GC (2001) Towards a cellular and molecular understanding of neurulation. Dev Dyn 221:117–145PubMedCrossRef Colas JF, Schoenwolf GC (2001) Towards a cellular and molecular understanding of neurulation. Dev Dyn 221:117–145PubMedCrossRef
2.
go back to reference Kanekar S, Kaneda H, Shively A (2011) Malformations of dorsal induction. seminars in ultrasound. CT and MRI 32:189–199CrossRef Kanekar S, Kaneda H, Shively A (2011) Malformations of dorsal induction. seminars in ultrasound. CT and MRI 32:189–199CrossRef
3.
go back to reference Greene NDE, Copp AJ (2009) Development of the vertebrate central nervous system: formation of the neural tube. Prenat Diagn 29:303–311PubMedCrossRef Greene NDE, Copp AJ (2009) Development of the vertebrate central nervous system: formation of the neural tube. Prenat Diagn 29:303–311PubMedCrossRef
4.
go back to reference Pang D, Zovickian J, Oviedo A, Moes GS (2010) Limited dorsal myeloschisis: a distinctive clinicopathological entity. Neurosurgery 67:1555–1579, discussion 1579–1580PubMedCrossRef Pang D, Zovickian J, Oviedo A, Moes GS (2010) Limited dorsal myeloschisis: a distinctive clinicopathological entity. Neurosurgery 67:1555–1579, discussion 1579–1580PubMedCrossRef
5.
go back to reference Tortori-Donati P, Rossi A, Cama A (2000) Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification. Neuroradiology 42:471–491PubMedCrossRef Tortori-Donati P, Rossi A, Cama A (2000) Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification. Neuroradiology 42:471–491PubMedCrossRef
6.
go back to reference Simon E (2004) MRI of the fetal spine. Pediatr Radiol 34:712–719 Simon E (2004) MRI of the fetal spine. Pediatr Radiol 34:712–719
8.
go back to reference Sonigo-Cohen P, Schmit P, Zerah M, Chat L, Simon I, Aubry MC, Gonzales M, Pierre-Kahn A, Brunelle F (2003) Prenatal diagnosis of diastematomyelia. Childs Nerv Syst 19:555–560PubMedCrossRef Sonigo-Cohen P, Schmit P, Zerah M, Chat L, Simon I, Aubry MC, Gonzales M, Pierre-Kahn A, Brunelle F (2003) Prenatal diagnosis of diastematomyelia. Childs Nerv Syst 19:555–560PubMedCrossRef
9.
go back to reference Has R, Yuksel A, Buyukkurt S, Kalelioglu I, Tatli B (2007) Prenatal diagnosis of diastematomyelia: presentation of eight cases and review of the literature. Ultrasound Obstet Gynecol 30:845–849PubMedCrossRef Has R, Yuksel A, Buyukkurt S, Kalelioglu I, Tatli B (2007) Prenatal diagnosis of diastematomyelia: presentation of eight cases and review of the literature. Ultrasound Obstet Gynecol 30:845–849PubMedCrossRef
10.
go back to reference Kumar R, Bansal KK, Chhabra DK (2002) Occurrence of split cord malformation in meningomyelocele: complex spina bifida. Pediatr Neurosurg 36:119–127PubMedCrossRef Kumar R, Bansal KK, Chhabra DK (2002) Occurrence of split cord malformation in meningomyelocele: complex spina bifida. Pediatr Neurosurg 36:119–127PubMedCrossRef
11.
go back to reference Sunden B (1964) On the diagnostic value of ultrasound in obstetrics and gynaecology. Acta Obstet Gynecol Scand 43(SUPPL 6):1–191PubMedCrossRef Sunden B (1964) On the diagnostic value of ultrasound in obstetrics and gynaecology. Acta Obstet Gynecol Scand 43(SUPPL 6):1–191PubMedCrossRef
12.
go back to reference Blondiaux E, Katorza E, Rosenblatt J, Nahama-Allouche C, Lenoir M, le Pointe HD, Garel C (2011) Prenatal US evaluation of the spinal cord using high-frequency linear transducers. Pediatr Radiol 41:374–383PubMedCrossRef Blondiaux E, Katorza E, Rosenblatt J, Nahama-Allouche C, Lenoir M, le Pointe HD, Garel C (2011) Prenatal US evaluation of the spinal cord using high-frequency linear transducers. Pediatr Radiol 41:374–383PubMedCrossRef
13.
go back to reference International Society of Ultrasound in Obstetrics & Gynecology Education Committee (2007) Sonographic examination of the fetal central nervous system: guidelines for performing the ‘basic examination’ and the ‘fetal neurosonogram’. Ultrasound Obstet Gynecol 29:109–116 International Society of Ultrasound in Obstetrics & Gynecology Education Committee (2007) Sonographic examination of the fetal central nervous system: guidelines for performing the ‘basic examination’ and the ‘fetal neurosonogram’. Ultrasound Obstet Gynecol 29:109–116
14.
go back to reference Radulescu M, Ulmeanu EC, Nedelea M, Oncescu A (2012) Prenatal ultrasound diagnosis of neural tube defects. Pictorial essay. Med Ultrason 14:147–153PubMed Radulescu M, Ulmeanu EC, Nedelea M, Oncescu A (2012) Prenatal ultrasound diagnosis of neural tube defects. Pictorial essay. Med Ultrason 14:147–153PubMed
15.
go back to reference McLone DG, Dias MS (2003) The Chiari II malformation: cause and impact. Childs Nerv Syst 19:540–550PubMedCrossRef McLone DG, Dias MS (2003) The Chiari II malformation: cause and impact. Childs Nerv Syst 19:540–550PubMedCrossRef
16.
go back to reference McLone DG, Knepper PA (1989) The cause of Chiari II malformation: a unified theory. Pediatr Neurosci 15:1–12PubMedCrossRef McLone DG, Knepper PA (1989) The cause of Chiari II malformation: a unified theory. Pediatr Neurosci 15:1–12PubMedCrossRef
17.
go back to reference Nicolaides KH, Campbell S, Gabbe SG, Guidetti R (1986) Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet 2:72–74PubMedCrossRef Nicolaides KH, Campbell S, Gabbe SG, Guidetti R (1986) Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet 2:72–74PubMedCrossRef
18.
go back to reference Chaoui R, Nicolaides KH (2010) From nuchal translucency to intracranial translucency: towards the early detection of spina bifida. Ultrasound Obstet Gynecol 35:133–138PubMedCrossRef Chaoui R, Nicolaides KH (2010) From nuchal translucency to intracranial translucency: towards the early detection of spina bifida. Ultrasound Obstet Gynecol 35:133–138PubMedCrossRef
19.
go back to reference Callen AL, Filly RA (2008) Supratentorial abnormalities in the Chiari II malformation, I: the ventricular “point”. J Ultrasound Med 27:33–38PubMed Callen AL, Filly RA (2008) Supratentorial abnormalities in the Chiari II malformation, I: the ventricular “point”. J Ultrasound Med 27:33–38PubMed
20.
go back to reference Bernard J-P, Cuckle HS, Stirnemann JJ, Salomon LJ, Ville Y (2012) Screening for fetal spina bifida by ultrasound examination in the first trimester of pregnancy using fetal biparietal diameter. Am J Obstet Gynecol 207:306.e301–306.e305CrossRef Bernard J-P, Cuckle HS, Stirnemann JJ, Salomon LJ, Ville Y (2012) Screening for fetal spina bifida by ultrasound examination in the first trimester of pregnancy using fetal biparietal diameter. Am J Obstet Gynecol 207:306.e301–306.e305CrossRef
21.
go back to reference Chaoui R, Nicolaides KH (2011) Detecting open spina bifida at the 11–13-week scan by assessing intracranial translucency and the posterior brain region: mid-sagittal or axial plane? Ultrasound Obstet Gynecol 38:609–612PubMedCrossRef Chaoui R, Nicolaides KH (2011) Detecting open spina bifida at the 11–13-week scan by assessing intracranial translucency and the posterior brain region: mid-sagittal or axial plane? Ultrasound Obstet Gynecol 38:609–612PubMedCrossRef
22.
go back to reference Hoopmann M, Abele H, Yazdi B, Schuhmann MU, Kagan KO (2011) Prenatal evaluation of the position of the fetal conus medullaris. Ultrasound Obstet Gynecol 38:548–552PubMedCrossRef Hoopmann M, Abele H, Yazdi B, Schuhmann MU, Kagan KO (2011) Prenatal evaluation of the position of the fetal conus medullaris. Ultrasound Obstet Gynecol 38:548–552PubMedCrossRef
23.
go back to reference Perlitz Y, Izhaki I, Ben-Ami M (2010) Sonographic evaluation of the fetal conus medullaris at 20 to 24 weeks’ gestation. Prenat Diagn 30:862–864PubMedCrossRef Perlitz Y, Izhaki I, Ben-Ami M (2010) Sonographic evaluation of the fetal conus medullaris at 20 to 24 weeks’ gestation. Prenat Diagn 30:862–864PubMedCrossRef
24.
go back to reference Zalel Y, Lehavi O, Aizenstein O, Achiron R (2006) Development of the fetal spinal cord: time of ascendance of the normal conus medullaris as detected by sonography. J Ultrasound Med 25:1397–1401, quiz 1402–1393PubMed Zalel Y, Lehavi O, Aizenstein O, Achiron R (2006) Development of the fetal spinal cord: time of ascendance of the normal conus medullaris as detected by sonography. J Ultrasound Med 25:1397–1401, quiz 1402–1393PubMed
25.
go back to reference Griffiths PD, Widjaja E, Paley MN, Whitby EH (2006) Imaging the fetal spine using in utero MR: diagnostic accuracy and impact on management. Pediatr Radiol 36:927–933PubMedCrossRef Griffiths PD, Widjaja E, Paley MN, Whitby EH (2006) Imaging the fetal spine using in utero MR: diagnostic accuracy and impact on management. Pediatr Radiol 36:927–933PubMedCrossRef
26.
go back to reference Hüsler MR, Danzer E, Johnson MP, Bebbington M, Sutton L, Adzick NS, Wilson RD (2009) Prenatal diagnosis and postnatal outcome of fetal spinal defects without Arnold-Chiari II malformation. Prenat Diagn 29:1050–1057PubMedCrossRef Hüsler MR, Danzer E, Johnson MP, Bebbington M, Sutton L, Adzick NS, Wilson RD (2009) Prenatal diagnosis and postnatal outcome of fetal spinal defects without Arnold-Chiari II malformation. Prenat Diagn 29:1050–1057PubMedCrossRef
27.
go back to reference Peruzzi P, Corbitt RJ, Raffel C (2010) Magnetic resonance imaging versus ultrasonography for the in utero evaluation of central nervous system anomalies. J Neurosurg: Pediatr 6:340–345CrossRef Peruzzi P, Corbitt RJ, Raffel C (2010) Magnetic resonance imaging versus ultrasonography for the in utero evaluation of central nervous system anomalies. J Neurosurg: Pediatr 6:340–345CrossRef
28.
go back to reference Aaronson OS, Hernanz-Schulman M, Bruner JP, Reed GW, Tulipan NB (2003) Myelomeningocele: prenatal evaluation–comparison between transabdominal US and MR imaging. Radiology 227:839–843PubMedCrossRef Aaronson OS, Hernanz-Schulman M, Bruner JP, Reed GW, Tulipan NB (2003) Myelomeningocele: prenatal evaluation–comparison between transabdominal US and MR imaging. Radiology 227:839–843PubMedCrossRef
29.
go back to reference Glenn OA, Barkovich J (2006) Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis: part 2. AJNR Am J Neuroradiol 27:1807–1814PubMed Glenn OA, Barkovich J (2006) Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis: part 2. AJNR Am J Neuroradiol 27:1807–1814PubMed
30.
go back to reference Chao TT, Dashe JS, Adams RC, Keefover-Hicks A, McIntire DD, Twickler DM (2011) Fetal spine findings on MRI and associated outcomes in children with open neural tube defects. Am J Roentgenol 197:W956–W961CrossRef Chao TT, Dashe JS, Adams RC, Keefover-Hicks A, McIntire DD, Twickler DM (2011) Fetal spine findings on MRI and associated outcomes in children with open neural tube defects. Am J Roentgenol 197:W956–W961CrossRef
31.
go back to reference Chao TT, Dashe JS, Adams RC, Keefover-Hicks A, McIntire DD, Twickler DM (2010) Central nervous system findings on fetal magnetic resonance imaging and outcomes in children with spina bifida. Obstet Gynecol 116:323–329PubMedCrossRef Chao TT, Dashe JS, Adams RC, Keefover-Hicks A, McIntire DD, Twickler DM (2010) Central nervous system findings on fetal magnetic resonance imaging and outcomes in children with spina bifida. Obstet Gynecol 116:323–329PubMedCrossRef
32.
go back to reference van der Vossen S, Pistorius LR, Mulder EJH, Platenkamp M, Stoutenbeek P, Visser GHA, Gooskens RHJM (2009) Role of prenatal ultrasound in predicting survival and mental and motor functioning in children with spina bifida. Ultrasound Obstet Gynecol 34:253–258CrossRef van der Vossen S, Pistorius LR, Mulder EJH, Platenkamp M, Stoutenbeek P, Visser GHA, Gooskens RHJM (2009) Role of prenatal ultrasound in predicting survival and mental and motor functioning in children with spina bifida. Ultrasound Obstet Gynecol 34:253–258CrossRef
33.
go back to reference Adzick NS, Thom EA, Spong CY, Brock JW 3rd, Burrows PK, Johnson MP, Howell LJ, Farrell JA, Dabrowiak ME, Sutton LN, Gupta N, Tulipan NB, D’Alton ME, Farmer DL (2011) A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med 364:993–1004PubMedCrossRef Adzick NS, Thom EA, Spong CY, Brock JW 3rd, Burrows PK, Johnson MP, Howell LJ, Farrell JA, Dabrowiak ME, Sutton LN, Gupta N, Tulipan NB, D’Alton ME, Farmer DL (2011) A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med 364:993–1004PubMedCrossRef
Metadata
Title
Prenatal diagnosis of spinal dysraphism
Authors
Liat Ben-Sira
Catherine Garel
Gustavo Malinger
Shlomi Constantini
Publication date
01-09-2013
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 9/2013
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-013-2178-5

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