Skip to content
Licensed Unlicensed Requires Authentication Published by De Gruyter August 26, 2022

Diagnostic approach to fetal ventriculomegaly

  • Vincenzo D’Addario EMAIL logo

Abstract

Ventriculomegaly (VM) is defined as an enlargement of the lateral ventricles of the developing fetal brain. The diagnosis is easily made by measuring the lateral ventricle width at the level of the atrium, which is normally <10 mm. VM is defined as mild when the atrial width is 10–12 mm, moderate 12–15 mm, severe >15 mm. VM is a non-specific sonographic sign which is common to different pathological entities and genetic conditions. When no associated anomaly can be found VM is defined as isolated. Since the prognosis of fetal VM mainly depends on the presence of associated anomalies, a careful diagnostic approach is necessary to rule out CNS and extra- CNS fetal anomalies. Magnetic Resonance Imaging can be a useful diagnostic tool complementary to ultrasound in order to recognize subtle brain anomalies, particularly cortical disorders. In this review the diagnostic approach to fetal VM will be discussed starting from ultrasound screening, moving to neurosonographic and MRI examination and genetic evaluation, in order to recognize the cause of VM and offer the appropriate counselling to the parents.


Corresponding author: Vincenzo D’Addario, Via F.S. Abbrescia 102, 70121 Bari, Italy, E-mail:

  1. Research funding: None declared.

  2. Author contributions: The author has accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: The author states no conflict of interest.

  4. Informed consent: Not applicable.

  5. Ethical approval: Not applicable.

References

1. Myrianthopoulos, NC. Epidemiology of central nervous malformations. In: Vinken, PJ, Bruyn, GW, editors. Handbook of clinical neurology. Amsterdam: Elsevier; 1977.Search in Google Scholar

2. D’Addario, V. The role of ultrasonography in recognizing the cause of fetal cerebral ventriculomegaly. J Perinat Med 2004;32:5–12. https://doi.org/10.1515/JPM.2004.002.Search in Google Scholar PubMed

3. Guibaud, L, Lacalm, A. Etiological diagnostic tools to elucidate ‘isolated’ ventriculomegaly. Ultrasound Obstet Gynecol 2015;46:1–11. https://doi.org/10.1002/uog.14687.Search in Google Scholar PubMed

4. Melchiorre, K, Bhide, A, Gika, AD, Pilu, G, Papageorghiou, AT. Counseling in isolated mild fetal ventriculomegaly. Ultrasound Obstet Gynecol 2009;34:212–24. https://doi.org/10.1002/uog.7307.Search in Google Scholar PubMed

5. Grandjean, H, Larroque, D, Levi, S, the Eurofetus team. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol 1999;181:446–54. https://doi.org/10.1016/s0002-9378(99)70577-6.Search in Google Scholar PubMed

6. Malinger, G, Paladini, D, Haratz, KK, Monteagudo, A, Pilu, GL, Timor-Tritsch. ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 1: performance of screening examination and indications for targeted neurosonography. Ultrasound Obstet Gynecol 2020;56:476–84. https://doi.org/10.1002/uog.22145.Search in Google Scholar PubMed

7. Guibaud, L. Fetal cerebral ventricular measurement and ventriculomegaly: time for procedure standardization. Ultrasound Obstet Gynecol 2009;34:127–30. https://doi.org/10.1002/uog.6456.Search in Google Scholar PubMed

8. Vinals, F, Correa, F. Proximal Cerebral Hemisphere: should we continue to assume symmetry or is it time to look at it routinely? Fetal Diagn Ther 2016;40:79–80. https://doi.org/10.1159/000439127.Search in Google Scholar PubMed

9. Paladini, D, Malinger, G, Birnbaum, R, Monteagudo, A, Pilu, G, Salomon, LJ, et al.. ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography. Ultrasound Obstet Gynecol 2021;57:661–71. https://doi.org/10.1002/uog.23616.Search in Google Scholar PubMed

10. Gaglioti, P, Oberoto, M, Todros, T. The significance of fetal ventriculomegaly: etiology, short- and long-term outcomes. Prenat Diagn 2009;29:381–8. https://doi.org/10.1002/pd.2195.Search in Google Scholar PubMed

11. Rossi, AC, Prefumo, F. Additional value of fetal magnetic resonance imaging in the prenatal diagnosis of central nervous system anomalies: a systematic review of the literature. Ultrasound Obstet Gynecol 2014;44:388–93. https://doi.org/10.1002/uog.13429.Search in Google Scholar PubMed

12. Griffiths, PD, Brackely, K, Bradburn, M, Connoly, DJA, Gawne-Cain, ML, Griffiths, DI, et al.. Anatomical subgroup analyses of the MERIDIEN cohort: ventriculomegaly. Ultrasound Obstet Gynecol 2017;50:736–44. https://doi.org/10.1002/uog.17475.Search in Google Scholar PubMed

13. The ENSO Working Group. Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: international multicenter study. Ultrasound Obstet Gynecol 2020;56:340–7. https://doi.org/10.1002/uog.21974.Search in Google Scholar PubMed

14. The ENSO Working Group. Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: a multicenter study. Eur J Obstet Gynecol Reprod Biol 2021;267:105–10.10.1016/j.ejogrb.2021.10.014Search in Google Scholar PubMed

15. Nicolaides, KH, Berry, S, Snijders, RJM, Thorpe-Beeston, JG, Gosden, C. Fetal lateral cerebral ventriculomegaly: associated malformations and chromosomal defects. Fetal Diagn Ther 1990;5:5–14. https://doi.org/10.1159/000263529.Search in Google Scholar PubMed

16. Devaseelan, P, Cardwell, C, Bell, B, Ong, S. Prognosis of isolated mild to moderate fetal cerebral ventriculomegaly: a systematic review. J Perinat Med 2010;38:401–9. https://doi.org/10.1515/jpm.2010.048.Search in Google Scholar PubMed

17. Pagani, G, Thilaganathan, B, Prefumo, F. Neurodevelopmental outcome in isolated mild fetal ventriculomegaly: systematic review and meta-analysis. Ultrasound Obstet Gynecol 2014;44:254–60. https://doi.org/10.1002/uog.13364.Search in Google Scholar PubMed

18. Toren, A, Alpern, S, Berkenstadt, M, Bar-Yosef, O, Pras, E, Katorza, E. Chromosomal microarray evaluation of fetal ventriculomegaly. Isr Med Assoc J 2020;22:639–44.Search in Google Scholar

19. Guo, D, Shi, Y, Jian, W, Fu, Y, Yang, H, Guo, M, et al.. A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus. J Gene Med 2020;22:e3180. https://doi.org/10.1002/jgm.3180.Search in Google Scholar PubMed

20. Varagur, K, Sanka, SA, Strahle, JM. Syndromic hydrocephalus. Neurosurg Clin 2022;33:67–79. https://doi.org/10.1016/j.nec.2021.09.006.Search in Google Scholar PubMed PubMed Central

21. Curcio, AM, Shekhawat, P, Reynolds, AS, Thakur, KT. Neurologic infections during pregnancy. Handb Clin Neurol 2020;172:79–104. https://doi.org/10.1016/b978-0-444-64240-0.00005-2.Search in Google Scholar

22. Leruez-Ville, M, Ville, Y. Fetal cytomegalovirus infection. Best Pract Res Clin Obstet Gynaecol 2017;38:97–107. https://doi.org/10.1016/j.bpobgyn.2016.10.005.Search in Google Scholar PubMed

23. Pisapia, JM, Sinha, S, Zarnow, DM, Johnson, MP, Heuer, GG. Fetal ventriculomegaly: diagnosis, treatment, and future directions. Childs Nerv Syst 2017;33:1113–23. https://doi.org/10.1007/s00381-017-3441-y.Search in Google Scholar PubMed

24. Santo, S, D’Antonio, F, Homfray, T, Rich, P, Pilu, G, Bhide, A, et al.. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol 2012;40:513–21. https://doi.org/10.1002/uog.12315.Search in Google Scholar PubMed

25. Sotiriadis, A, Makrydimas, G. Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. Am J Obstet Gynecol 2012;206:337.e1–5. https://doi.org/10.1016/j.ajog.2011.12.024.Search in Google Scholar PubMed

26. Carta, S, Kealin Agten, A, Belcaro, C, Bhide, A. Outcome of fetuses with prenatal diagnosis of isolated severebilateral ventriculomegaly: systematic review and meta-analysis. Ultrasound Obstet Gynecol 2018;52:165–73. https://doi.org/10.1002/uog.19038.Search in Google Scholar PubMed

27. Thorup, E, Jensen, LN, Bak, GS, Ekelund, CK, Greisen, G, Jørgensen, DS, et al.. Neurodevelopmental disorder in children believed to have isolated mild ventriculomegaly prenatally. Ultrasound Obstet Gynecol 2019;54:182–9. https://doi.org/10.1002/uog.20111.Search in Google Scholar PubMed

Received: 2022-06-29
Accepted: 2022-07-25
Published Online: 2022-08-26
Published in Print: 2023-01-27

© 2022 Walter de Gruyter GmbH, Berlin/Boston

Downloaded on 9.6.2024 from https://www.degruyter.com/document/doi/10.1515/jpm-2022-0312/html
Scroll to top button