Skip to main content

Prenatal Hydrocephalus: Prenatal Diagnosis

  • Reference work entry
  • First Online:
  • 1451 Accesses

Abstract

This chapter comprises three parts: (1) embryology of the central nervous system, (2) normal ultrasound appearance of the brain from the embryonic period to term of pregnancy, and (3) ultrasound prenatal diagnosis of primary and secondary ventriculomegaly/hydrocephalus. In particular, the first part of the chapter represents a thorough description of the early development of the brain in the human fetus, including an interesting sono-anatomic correlation since when the embryonic brain can be explored with ultrasound, i.e., from the 7th gestational week. The second part is meant to illustrate to non-experts in fetal neurology how ultrasound is able to follow the dramatic changes in the brain appearance and anatomy due to the various phases of cerebral development (from the normally lissencephalic brain of the 2nd trimester to the 3rd trimester process of neuronal proliferation and migration). The last part describes in details the diagnostic criteria to establish in the fetus a diagnosis of primary (aqueductal stenosis) versus secondary ventriculomegaly, the latter related to a wide range of genetic and developmental disorders.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   899.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD   1,099.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  • Almog B, Gamzu R, Achiron R et al (2003) Fetal lateral ventricular width: what should be its upper limit? A prospective cohort study and reanalysis of the current and previous data. J Ultrasound Med 22:39–43

    Article  PubMed  Google Scholar 

  • Bahlmann F, Reinhard I, Schramm T et al (2015) Cranial and cerebral signs in the diagnosis of spina bifida between 18 and 22 weeks of gestation: a German multicentre study. Prenat Diagn 35(3):228–235. https://doi.org/10.1002/pd.4524. Epub 2015 Feb 4

    Article  CAS  PubMed  Google Scholar 

  • Barkovich AJ, Kjos BO (1989) Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging. AJR 153:1289–1300

    Article  CAS  PubMed  Google Scholar 

  • Barkovich AJ, Millen KJ, Dobyns WB (2009) A developmental and genetic classification for midbrain-hindbrain malformations. Brain 132(Pt 12):3199–3230

    Article  PubMed  PubMed Central  Google Scholar 

  • Bayer SA, Altman J (2008) Atlas of human central nervous system development – 5 volume set. CRC Press/Taylor and Francis Group, Boca Raton

    Google Scholar 

  • Blake JA (1900) The roof and lateral recesses of the 4th ventricle, considered morphologically and embryologically. J Comp Neurol 10:79–108

    Article  Google Scholar 

  • Brocklehurst G (1969) The development of the human cerebrospinal fluid pathway with particular reference to the roof of the fourth ventricle. J Anat 105(Pt 3):467–475

    CAS  PubMed  PubMed Central  Google Scholar 

  • Bromley B, Frigoletto FD Jr, Benacerraf BR (1991) Mild fetal lateral cerebral ventriculomegaly: clinical course and outcome. Am J Obstet Gynecol 164:863–867

    Article  CAS  PubMed  Google Scholar 

  • Bystron I, Blakemore C, Rakic P (2008) Development of the human cerebral cortex: Boulder Committee revisited. Nat Rev Neurosci 9(2):110–122

    Article  CAS  PubMed  Google Scholar 

  • Cagneaux M, Vasiljevic A, Massoud M et al (2013) Severe second-trimester obstructive ventriculomegaly related to disorders of diencephalic, mesencephalic and rhombencephalic differentiation. Ultrasound Obstet Gynecol 42(5):596–602

    Article  CAS  PubMed  Google Scholar 

  • Cardoza JD, Goldstein RB, Filly RA (1988) Exclusion of fetal ventriculomegaly with a single measurement: the width of lateral ventricular atrium. Radiology 169:711–714

    Article  CAS  PubMed  Google Scholar 

  • Cohen-Sacher B, Lerman-Sagie T, Lev D et al (2006) Sonographic developmental milestones of the fetal cerebral cortex: a longitudinal study. Ultrasound Obstet Gynecol 27(5):494–502

    Article  CAS  PubMed  Google Scholar 

  • De Keersmaecker B, Van Esch H, Van Schoubroeck D et al (2013) Prenatal diagnosis of MPPH syndrome. Prenat Diagn 33(3):292–295

    Article  PubMed  Google Scholar 

  • Deloison B, Chalouhi GE, Sonigo P (2012) Hidden mortality of prenatally diagnosed vein of Galen aneurysmal malformation: retrospective study and review of the literature. Ultrasound Obstet Gynecol 40(6):652–658

    Article  CAS  PubMed  Google Scholar 

  • Emery SP, Hogge WA, Hill LM (2005) Accuracy of prenatal diagnosis of isolated aqueductal stenosis. Prenat Diagn 35:319–324

    Article  Google Scholar 

  • Garel C (2004) Abnormalities of the fetal cerebral parenchyma: ischaemic and haemorrhagic lesions. In: Garel C (ed) MRI of the fetal brain. Springer-Verlag Berlin Heidelberg, pp 247–262

    Google Scholar 

  • Gato A, Desmond ME (2009) Why the embryo still matters: CSF and the neuroepithelium as interdependent regulators of embryonic brain growth, morphogenesis and histiogenesis. Dev Biol 327(2):263–272

    Article  CAS  PubMed  Google Scholar 

  • Hertzberg BS, Kliewer MA, Freed KS et al (1997) Third ventricle: size and appearance in normal fetuses through gestation. Radiology 203(3):641–644

    Article  CAS  PubMed  Google Scholar 

  • 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(1):109–116

    Article  Google Scholar 

  • Kennedy D, Chitayat D, Winsor EJT et al (1998) Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. Am J Med Genet 77:317–321

    Article  CAS  PubMed  Google Scholar 

  • Kier EL, Truwit CL (1996) The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis. AJNR Am J Neuroradiol 17(9):1631–1641

    CAS  PubMed  PubMed Central  Google Scholar 

  • Lun MP, Monuki ES, Lehtinen MK (2015) Development and functions of the choroid plexus-cerebrospinal fluid system. Nat Rev Neurosci 16(8):445–457

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Mack J, Squier W, Eastman JT (2009) Anatomy and development of the meninges: implications for subdural collections and CSF circulation. Pediatr Radiol 39(3):200–210

    Article  PubMed  Google Scholar 

  • Mangione R, Fries N, Godard P et al (2011) Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum. Ultrasound Obstet Gynecol 37(3):290–295

    Article  CAS  PubMed  Google Scholar 

  • Melchiorre K, Bhide A, GIka AD et al (2009) Counseling in isolated mild fetal ventriculomegaly. Ultrasound Obstet Gynecol 34:212–224

    Article  CAS  PubMed  Google Scholar 

  • Monteagudo A, Timor-Tritsch IE (1997) Development of fetal gyri, sulci and fissures: a transvaginal sonographic study. Ultrasound Obstet Gynecol 9(4):222–228

    Article  CAS  PubMed  Google Scholar 

  • Monteagudo A, Timor-Tritsch IE (2009) Normal sonographic development of the central nervous system from the second trimester onwards using 2D, 3D and transvaginal sonography. Prenat Diagn 29(4):326–339

    Article  PubMed  Google Scholar 

  • Mortazavi MM, Griessenauer CJ, Adeeb N et al (2014) The choroid plexus: a comprehensive review of its history, anatomy, function, histology, embryology, and surgical considerations. Childs Nerv Syst 30(2):205–214

    Article  PubMed  Google Scholar 

  • Müller F, O’Rahilly R (2003) Segmentation in staged human embryos: the occipitocervical region revisited. J Anat 203(3):297–315

    Article  PubMed  PubMed Central  Google Scholar 

  • Napolitano R, Maruotti GM, Quarantelli M (2009) Prenatal diagnosis of Seckel syndrome on three-dimensional sonography and magnetic resonance imaging. J Ultrasound Med 28:369–374

    Article  PubMed  Google Scholar 

  • Nicolaides KH, Campbell S, Gabbe SG (1986) Ultrasound screening for spina bifida: cranial and cerebellar signs. Lancet 2(8498):72–74

    Article  CAS  PubMed  Google Scholar 

  • O’Rahilly R, Muller F (1987) Developmental stages in human embryos. Carnegie institution of Washington, Washington, DC

    Google Scholar 

  • O’Rahilly R, Muller F (1999) Minireview: Summary of the initial development of the human nervous system. Teratology 1999; 60(1):39–41

    Google Scholar 

  • O’Rahilly R, Muller F (2005) The embryonic human brain: an atlas of developmental stages, 3rd edn. Wiley, New York

    Google Scholar 

  • O’Rahilly R, Muller F (2010) Developmental stages in human embryos: revised and new measurements. Cells Tissues Organs 192(2):73–84

    Article  PubMed  Google Scholar 

  • Ouahba J, Luton D, Garel C et al (2006) Prenatal isolated mild ventriculomegaly: outcome in 167 cases. BJOG 113:1072–1079

    Article  CAS  PubMed  Google Scholar 

  • Paladini D (2008) Diagnosis of spina bifida and other dysraphic states in the fetus. In: Ozek MM, Cinalli G, Maixner WJ (ed). Spina Bifida. Management and outcome. Springer-Verlag Italia, Milan, p 75–102

    Google Scholar 

  • Paladini D, Volpe P (2006) Posterior fossa and vermian morphometry in the characterization of fetal cerebellar abnormalities: a prospective three-dimensional ultrasound study. Ultrasound Obstet Gynecol 27(5):482–489

    Article  CAS  PubMed  Google Scholar 

  • Paladini D, Sglavo G, Quarantelli M et al (2005) Large infratentorial subdural hemorrhage diagnosed by ultrasound and MRI in a second-trimester fetus. Letter to the Editor. Ultrasound Obstet Gynecol 26:789–796

    Article  CAS  PubMed  Google Scholar 

  • Paladini D, Quarantelli M, Pastore G (2012) Abnormal or delayed development of the posterior membranous area of the brain: anatomy, ultrasound diagnosis, natural history and outcome of Blake’s pouch cyst in the fetus. Ultrasound Obstet Gynecol 39(3):279–287

    Article  CAS  PubMed  Google Scholar 

  • Paladini D, Pastore G, Cavallaro A et al (2013) Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age. Ultrasound Obstet Gynecol 42(6):687–690

    Article  CAS  PubMed  Google Scholar 

  • Paladini D, Quarantelli M, Sglavo G (2014) Accuracy of neurosonography and MRI in clinical management of fetuses referred with central nervous system abnormalities. Ultrasound Obstet Gynecol 44(2):188–196

    Article  CAS  PubMed  Google Scholar 

  • Pinto J, Paladini D, Severino M (2016) Delayed rotation of the cerebellar vermis: a pitfall in early second-trimester fetal magnetic resonance imaging. Ultrasound Obstet Gynecol 48(1):121–124

    Article  CAS  PubMed  Google Scholar 

  • Pugash D, Hendson G, Dunham CP et al (2012) Sonographic assessment of normal and abnormal patterns of fetal cerebral lamination. Ultrasound Obstet Gynecol 40(6):642–651

    Article  CAS  PubMed  Google Scholar 

  • Rakic S, Zecevic N (2003) Emerging complexity of layer I in human cerebral cortex. Cereb Cortex 13(10):1072–1083

    Article  PubMed  Google Scholar 

  • Rubenstein JL, Shimamura K, Martinez S, Puelles L (1998) Regionalization of the prosencephalic neural plate. Annu Rev Neurosci 21:445–477

    Article  CAS  PubMed  Google Scholar 

  • Salomon LJ, Ouahba J, Delezoide AL, Vuillard E, Oury JF, Sebag G, Garel C et al (2006) Third-trimester fetal MRI in isolated 10–12 mm ventriculomegaly: is it worth it? BJOG 113:942–947

    Article  CAS  PubMed  Google Scholar 

  • Sari A, Ahmetoglu A, Dinc H et al (2005) Fetal biometry: size and configuration of the third ventricle. Acta Radiol 46(6):631–635

    Article  CAS  PubMed  Google Scholar 

  • Sepulveda W, Corral E, Ayala C et al (2004) Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound. Ultrasound Obstet Gynecol 23:352–356

    Article  CAS  PubMed  Google Scholar 

  • Strazielle N, Ghersi-Egea JF (2000) Choroid plexus in the central nervous system: biology and physiopathology. J Neuropathol Exp Neurol 59(7):561–574

    Article  CAS  PubMed  Google Scholar 

  • Streeter GL (1911) Die Entwicklung des Nervensystems. In: Keibel F, Mall FP (eds) Handbuch der Entwicklungsgeschichte des Menschen. Zweiter Band, Hirzel/Leipzig, pp.1–156

    Google Scholar 

  • Timor-Tritsch IE, Monteagudo A (1996) Transvaginal fetal neurosonography: standardization of the planes and sections by anatomic landmarks. Ultrasound Obstet Gynecol 8(1):42–47

    Article  CAS  PubMed  Google Scholar 

  • Toi A, Lister WS, Fong KW (2004) How early are fetal cerebral sulci visible at prenatal ultrasound and what is the normal pattern of early fetal sulcal development? Ultrasound Obstet Gynecol 24(7):706–715

    Article  CAS  PubMed  Google Scholar 

  • Tortori-Donati P, Fondelli MP, Rossi A et al (1996) Cystic malformations of the posterior cranial fossa originating from a defect of the posterior membranous area. Mega cisterna magna and persisting Blake’s pouch: two separate entities. Childs Nerv Syst 12(6):303–308

    Article  CAS  PubMed  Google Scholar 

  • Van den Hof MC, Wilson RD, Diagnostic Imaging Committee, Society of Obstetricians and Gynaecologists of Canada, Genetics Committee, Society of Obstetricians and Gynaecologists of Canada (2005) Fetal soft markers in obstetric ultrasound. J Obstet Gynaecol Can 27:592–636

    Article  PubMed  Google Scholar 

  • Vassallo M, Maruotti GM, Quarantelli M et al (2012) Choroid plexus carcinoma: prenatal characterization by 3-dimensional sonography and magnetic resonance imaging, perinatal management, and natural history. J Ultrasound Med 31(2):337–339

    Article  PubMed  Google Scholar 

  • Volpe P, Muto B, Passamonti U (2015) Abnormal sonographic appearance of posterior brain at 11–14 weeks and fetal outcome. Prenat Diagn 35(7):717–723

    Article  CAS  PubMed  Google Scholar 

  • Wilson JT (1937) On the nature and mode of origin of the foramen of Magendie. J Anat 71(Pt 4):423–428

    CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Dario Paladini .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Switzerland AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Paladini, D., Birnbaum, R. (2019). Prenatal Hydrocephalus: Prenatal Diagnosis. In: Cinalli, G., Özek, M., Sainte-Rose, C. (eds) Pediatric Hydrocephalus. Springer, Cham. https://doi.org/10.1007/978-3-319-27250-4_47

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-27250-4_47

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-27248-1

  • Online ISBN: 978-3-319-27250-4

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics