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Cerebral ventriculomegaly

MedGen UID:
283902
•Concept ID:
C1531647
•
Finding
Synonyms: Cerebral Ventriculomegalies; Cerebral Ventriculomegaly; Ventriculomegalies, Cerebral; Ventriculomegaly, Cerebral
SNOMED CT: Cerebral ventriculomegaly (413808003); Ventriculomegaly (413808003)
 
OMIM®: 236600

Definition

Abnormal enlargement of the cerebral ventricles. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebral ventriculomegaly

Professional guidelines

PubMed

Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital.
Yi JL, Zhang W, Meng DH, Ren LJ, Yu J, Wei YL
J Int Med Res 2019 Nov;47(11):5508-5517. Epub 2019 Aug 19 doi: 10.1177/0300060519853405. PMID: 31422728Free PMC Article
Fetal borderline cerebral ventriculomegaly: clinical significance and management.
Simioli S, Napolitano R, Quaglia F, Mazzarelli LL, Agangi A, Milanes GM, Tessitore G, Iannaccone A, Maruotti GM, Martinelli P
Minerva Ginecol 2009 Apr;61(2):109-12. PMID: 19255558
Prenatal diagnosis of congenital toxoplasmosis by duplex real-time PCR using fluorescence resonance energy transfer hybridization probes.
Costa JM, Ernault P, Gautier E, Bretagne S
Prenat Diagn 2001 Feb;21(2):85-8. doi: 10.1002/1097-0223(200102)21:2<85::aid-pd18>3.0.co;2-1. PMID: 11241531

Recent clinical studies

Etiology

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Brar BK, Thompson MG, Vora NL, Gilmore K, Blakemore K, Miller KA, Giordano J, Dufke A, Wong B, Stover S, Lianoglou B, Van den Veyver I, Dempsey E, Rosner M, Chong K, Chitayat D, Sparks TN, Norton ME, Wapner R, Baranano K, Jelin AC; Fetal Sequencing Consortium
Prenat Diagn 2022 Dec;42(13):1686-1693. Epub 2022 Nov 28 doi: 10.1002/pd.6269. PMID: 36403095Free PMC Article
Fetal cerebral ventriculomegaly: What do we tell the prospective parents?
Giorgione V, Haratz KK, Constantini S, Birnbaum R, Malinger G
Prenat Diagn 2022 Dec;42(13):1674-1681. Epub 2022 Nov 21 doi: 10.1002/pd.6266. PMID: 36371614Free PMC Article
Sonographic spectrum and postnatal outcomes of early-onset versus late-onset fetal cerebral ventriculomegaly.
Bhatia A, Thia EWH, Bhatia A, Ruochen D, Yeo GSH
J Matern Fetal Neonatal Med 2022 Dec;35(23):4612-4619. Epub 2020 Dec 8 doi: 10.1080/14767058.2020.1857358. PMID: 33292033
Chromosomal abnormalities and neurological outcomes in fetal cerebral ventriculomegaly: a retrospective cohort analysis.
Lok WY, Kong CW, Hui SYA, Shi MM, Choy KW, To WK, Leung TY
Hong Kong Med J 2021 Dec;27(6):428-436. doi: 10.12809/hkmj208850. PMID: 34949731
Ventriculo-amniotic shunting for severe fetal ventriculomegaly.
Litwinska M, Litwinska E, Czaj M, Polis B, Polis L, Szaflik K
Acta Obstet Gynecol Scand 2019 Sep;98(9):1172-1177. Epub 2019 May 9 doi: 10.1111/aogs.13622. PMID: 30977122

Diagnosis

Fetal Cerebral Ventriculomegaly: A Narrative Review and Practical Recommendations for Pediatric Neurologists.
Agarwal S, Venkatesan C, Vollmer B, Scelsa B, Lemmon ME, Pardo AC, Mulkey SB, Tarui T, Dadhwal V, Scher M, Hart AR, Gano D
Pediatr Neurol 2024 Jul;156:119-127. Epub 2024 Apr 25 doi: 10.1016/j.pediatrneurol.2024.04.016. PMID: 38761643
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT
JAMA Netw Open 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. PMID: 37991765Free PMC Article
Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.
Nayak SS, Harkness R, Shukla A, Banka S, Newman WG, Girisha KM
Am J Med Genet A 2023 Mar;191(3):730-741. Epub 2022 Dec 7 doi: 10.1002/ajmg.a.63067. PMID: 36478354Free PMC Article
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Brar BK, Thompson MG, Vora NL, Gilmore K, Blakemore K, Miller KA, Giordano J, Dufke A, Wong B, Stover S, Lianoglou B, Van den Veyver I, Dempsey E, Rosner M, Chong K, Chitayat D, Sparks TN, Norton ME, Wapner R, Baranano K, Jelin AC; Fetal Sequencing Consortium
Prenat Diagn 2022 Dec;42(13):1686-1693. Epub 2022 Nov 28 doi: 10.1002/pd.6269. PMID: 36403095Free PMC Article
Fetal cerebral ventriculomegaly: What do we tell the prospective parents?
Giorgione V, Haratz KK, Constantini S, Birnbaum R, Malinger G
Prenat Diagn 2022 Dec;42(13):1674-1681. Epub 2022 Nov 21 doi: 10.1002/pd.6266. PMID: 36371614Free PMC Article

Therapy

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT
JAMA Netw Open 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. PMID: 37991765Free PMC Article
Percutaneous fetal endoscopic third ventriculostomy for severe isolated cerebral ventriculomegaly.
Peralta CFA, Medrado AP, Botelho RD, Jorge Rodrigues da Costa K, Imada V, Lamis F
Prenat Diagn 2023 Dec;43(13):1614-1621. Epub 2023 Nov 8 doi: 10.1002/pd.6465. PMID: 37940634
Suspected Low-Pressure Hydrocephalus Caused by Spinal Drainage after Subarachnoid Hemorrhage.
Ozeki T, Kubota A, Murai Y, Morita A
J Nippon Med Sch 2022 May 12;89(2):238-243. Epub 2021 Sep 14 doi: 10.1272/jnms.JNMS.2022_89-209. PMID: 34526456
Ventriculo-amniotic shunting for severe fetal ventriculomegaly.
Litwinska M, Litwinska E, Czaj M, Polis B, Polis L, Szaflik K
Acta Obstet Gynecol Scand 2019 Sep;98(9):1172-1177. Epub 2019 May 9 doi: 10.1111/aogs.13622. PMID: 30977122
Association between Fetal Cerebral Ventriculomegaly and Platelet Alloimmunisation.
Martillotti G, Rypens F, David M, Catalfamo N, Dubé J, Taillefer C, Lachance C, Audibert F
Fetal Diagn Ther 2017;42(1):35-41. Epub 2016 Sep 7 doi: 10.1159/000448994. PMID: 27597992

Prognosis

Fetal Cerebral Ventriculomegaly: A Narrative Review and Practical Recommendations for Pediatric Neurologists.
Agarwal S, Venkatesan C, Vollmer B, Scelsa B, Lemmon ME, Pardo AC, Mulkey SB, Tarui T, Dadhwal V, Scher M, Hart AR, Gano D
Pediatr Neurol 2024 Jul;156:119-127. Epub 2024 Apr 25 doi: 10.1016/j.pediatrneurol.2024.04.016. PMID: 38761643
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Brar BK, Thompson MG, Vora NL, Gilmore K, Blakemore K, Miller KA, Giordano J, Dufke A, Wong B, Stover S, Lianoglou B, Van den Veyver I, Dempsey E, Rosner M, Chong K, Chitayat D, Sparks TN, Norton ME, Wapner R, Baranano K, Jelin AC; Fetal Sequencing Consortium
Prenat Diagn 2022 Dec;42(13):1686-1693. Epub 2022 Nov 28 doi: 10.1002/pd.6269. PMID: 36403095Free PMC Article
Fetal cerebral ventriculomegaly: What do we tell the prospective parents?
Giorgione V, Haratz KK, Constantini S, Birnbaum R, Malinger G
Prenat Diagn 2022 Dec;42(13):1674-1681. Epub 2022 Nov 21 doi: 10.1002/pd.6266. PMID: 36371614Free PMC Article
Sonographic spectrum and postnatal outcomes of early-onset versus late-onset fetal cerebral ventriculomegaly.
Bhatia A, Thia EWH, Bhatia A, Ruochen D, Yeo GSH
J Matern Fetal Neonatal Med 2022 Dec;35(23):4612-4619. Epub 2020 Dec 8 doi: 10.1080/14767058.2020.1857358. PMID: 33292033
Prognosis of isolated mild to moderate fetal cerebral ventriculomegaly: a systematic review.
Devaseelan P, Cardwell C, Bell B, Ong S
J Perinat Med 2010 Jul;38(4):401-9. doi: 10.1515/jpm.2010.048. PMID: 20298149

Clinical prediction guides

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
DeSpenza T Jr, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina ML, Desmet N, Dang HQ, Fields J, Nelson-Williams C, Zhang J, Mekbib KY, Dennis E, Mehta NH, Duy PQ, Shimelis H, Walsh LK, Marlier A, Deniz E, Lake EMR, Constable RT, Hoffman EJ, Lifton RP, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper SL, Jin SC, Kahle KT, Luikart BW
Proc Natl Acad Sci U S A 2024 Jul 2;121(27):e2314702121. Epub 2024 Jun 25 doi: 10.1073/pnas.2314702121. PMID: 38916997Free PMC Article
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT
JAMA Netw Open 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. PMID: 37991765Free PMC Article
Fetal cerebral ventriculomegaly: What do we tell the prospective parents?
Giorgione V, Haratz KK, Constantini S, Birnbaum R, Malinger G
Prenat Diagn 2022 Dec;42(13):1674-1681. Epub 2022 Nov 21 doi: 10.1002/pd.6266. PMID: 36371614Free PMC Article
Sonographic spectrum and postnatal outcomes of early-onset versus late-onset fetal cerebral ventriculomegaly.
Bhatia A, Thia EWH, Bhatia A, Ruochen D, Yeo GSH
J Matern Fetal Neonatal Med 2022 Dec;35(23):4612-4619. Epub 2020 Dec 8 doi: 10.1080/14767058.2020.1857358. PMID: 33292033
Ventriculo-amniotic shunting for severe fetal ventriculomegaly.
Litwinska M, Litwinska E, Czaj M, Polis B, Polis L, Szaflik K
Acta Obstet Gynecol Scand 2019 Sep;98(9):1172-1177. Epub 2019 May 9 doi: 10.1111/aogs.13622. PMID: 30977122

Recent systematic reviews

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT
JAMA Netw Open 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. PMID: 37991765Free PMC Article
Prognosis of isolated mild to moderate fetal cerebral ventriculomegaly: a systematic review.
Devaseelan P, Cardwell C, Bell B, Ong S
J Perinat Med 2010 Jul;38(4):401-9. doi: 10.1515/jpm.2010.048. PMID: 20298149

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