U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Enlarged fetal cisterna magna

MedGen UID:
868951
•Concept ID:
C4023365
•
Finding
Synonym: Enlarged foetal cisterna magna
 
HPO: HP:0011427

Definition

The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEnlarged fetal cisterna magna

Professional guidelines

PubMed

Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Juan Z, Cuixia G, Yuanjie C, Yan L, Ling Y, Tiejuan Z, Li W, Jijing H, Guohui Z, Yousheng Y, Qingqing W, Lijuan S
Eur J Med Res 2024 Jul 31;29(1):397. doi: 10.1186/s40001-024-01993-3. PMID: 39085968Free PMC Article
Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene.
Horton-Bell M, Hamilton S, Keelagher R, Allen S, De Burca A, Ioannou C, Impey L, Cilliers D
Prenat Diagn 2022 Nov;42(12):1481-1483. Epub 2022 Oct 21 doi: 10.1002/pd.6249. PMID: 36217303
Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.
Lei T, Feng JL, Xie YJ, Xie HN, Zheng J, Lin MF
Prenat Diagn 2017 Nov;37(11):1160-1168. Epub 2017 Oct 23 doi: 10.1002/pd.5159. PMID: 28940600

Recent clinical studies

Etiology

Central nervous system biometry in fetuses with and without congenital heart diseases.
Castellanos Gutierrez AS, Schmitz R, Hammer K, Braun J, Oelmeier K, Köster HA, Möllers M, Klockenbusch W, Steinhard J, Kubiak K
Arch Gynecol Obstet 2022 Dec;306(6):1885-1890. Epub 2022 Mar 17 doi: 10.1007/s00404-022-06484-6. PMID: 35296918Free PMC Article
Are fetal gender and gestational age related to the size of cisterna magna?
Li Y, Zhu XL, Pan MZ, Ma Z, Tao GW
J Matern Fetal Neonatal Med 2022 Nov;35(22):4312-4317. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1849111. PMID: 33261526
Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study.
Hu T, Tian T, Zhang Z, Wang J, Hu R, Xiao L, Zhu H, Lai Y, Wang H, Liu S
Am J Obstet Gynecol 2021 May;224(5):516.e1-516.e16. Epub 2020 Oct 26 doi: 10.1016/j.ajog.2020.10.039. PMID: 33122027
Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.
Lei T, Feng JL, Xie YJ, Xie HN, Zheng J, Lin MF
Prenat Diagn 2017 Nov;37(11):1160-1168. Epub 2017 Oct 23 doi: 10.1002/pd.5159. PMID: 28940600
Outcome of isolated enlarged cisterna magna identified in utero: experience at a single medical center in mainland China.
Liu Z, Han J, Fu F, Liu J, Li R, Yang X, Pan M, Zhen L, Li D, Liao C
Prenat Diagn 2017 Jun;37(6):575-582. Epub 2017 May 10 doi: 10.1002/pd.5046. PMID: 28370151

Diagnosis

Are fetal gender and gestational age related to the size of cisterna magna?
Li Y, Zhu XL, Pan MZ, Ma Z, Tao GW
J Matern Fetal Neonatal Med 2022 Nov;35(22):4312-4317. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1849111. PMID: 33261526
Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature.
Sepulveda W, Sepulveda F
J Matern Fetal Neonatal Med 2022 Jul;35(14):2751-2758. Epub 2020 Jul 28 doi: 10.1080/14767058.2020.1799349. PMID: 32723018
Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study.
Hu T, Tian T, Zhang Z, Wang J, Hu R, Xiao L, Zhu H, Lai Y, Wang H, Liu S
Am J Obstet Gynecol 2021 May;224(5):516.e1-516.e16. Epub 2020 Oct 26 doi: 10.1016/j.ajog.2020.10.039. PMID: 33122027
Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.
Chen CP, Chang TY, Lin TW, Chern SR, Chen SW, Lai ST, Chuang TY, Wang W
Taiwan J Obstet Gynecol 2018 Feb;57(1):119-122. doi: 10.1016/j.tjog.2017.12.020. PMID: 29458880
Neuroimaging of Dandy-Walker malformation: new concepts.
Correa GG, Amaral LF, Vedolin LM
Top Magn Reson Imaging 2011 Dec;22(6):303-12. doi: 10.1097/RMR.0b013e3182a2ca77. PMID: 24132069

Prognosis

Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy-Walker malformation and single ventricle heart.
Stanković A, Toljić M, Orlić NK, Miković Ž, Joksić I
Prenat Diagn 2024 Jul;44(8):1008-1011. Epub 2024 May 31 doi: 10.1002/pd.6614. PMID: 38818866
Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study.
Hu T, Tian T, Zhang Z, Wang J, Hu R, Xiao L, Zhu H, Lai Y, Wang H, Liu S
Am J Obstet Gynecol 2021 May;224(5):516.e1-516.e16. Epub 2020 Oct 26 doi: 10.1016/j.ajog.2020.10.039. PMID: 33122027
Developmental outcome of children with enlargement of the cisterna magna identified in utero.
Dror R, Malinger G, Ben-Sira L, Lev D, Pick CG, Lerman-Sagie T
J Child Neurol 2009 Dec;24(12):1486-92. Epub 2009 Feb 23 doi: 10.1177/0883073808331358. PMID: 19240044
Perinatal imaging findings of inherited Sotos syndrome.
Chen CP, Lin SP, Chang TY, Chiu NC, Shih SL, Lin CJ, Wang W, Hsu HC
Prenat Diagn 2002 Oct;22(10):887-92. doi: 10.1002/pd.433. PMID: 12378571
Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
Leonardi ML, Pai GS, Wilkes B, Lebel RR
Am J Med Genet 2001 Aug 15;102(3):237-42. PMID: 11484200

Clinical prediction guides

Central nervous system biometry in fetuses with and without congenital heart diseases.
Castellanos Gutierrez AS, Schmitz R, Hammer K, Braun J, Oelmeier K, Köster HA, Möllers M, Klockenbusch W, Steinhard J, Kubiak K
Arch Gynecol Obstet 2022 Dec;306(6):1885-1890. Epub 2022 Mar 17 doi: 10.1007/s00404-022-06484-6. PMID: 35296918Free PMC Article
Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature.
Sepulveda W, Sepulveda F
J Matern Fetal Neonatal Med 2022 Jul;35(14):2751-2758. Epub 2020 Jul 28 doi: 10.1080/14767058.2020.1799349. PMID: 32723018
Outcome of isolated enlarged cisterna magna identified in utero: experience at a single medical center in mainland China.
Liu Z, Han J, Fu F, Liu J, Li R, Yang X, Pan M, Zhen L, Li D, Liao C
Prenat Diagn 2017 Jun;37(6):575-582. Epub 2017 May 10 doi: 10.1002/pd.5046. PMID: 28370151
Reassessment of the normal fetal cisterna magna during gestation and an alternative approach to the definition of cisterna magna dilatation.
Brown RN
Fetal Diagn Ther 2013;34(1):44-9. Epub 2013 Apr 20 doi: 10.1159/000350269. PMID: 23615311
Enlarged cisterna magna and the Dandy-Walker malformation: factors associated with chromosome abnormalities.
Nyberg DA, Mahony BS, Hegge FN, Hickok D, Luthy DA, Kapur R
Obstet Gynecol 1991 Mar;77(3):436-42. PMID: 1992413

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...