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Abnormal fetal central nervous system morphology

MedGen UID:: 1815049
•Concept ID:: C5706143
•: Congenital Abnormality

Synonym:	Abnormal fetal nervous system morphology

HPO:	HP:0034206

Definition

An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal fetal central nervous system morphology

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Abnormal fetal morphology
      - Abnormal fetal central nervous system morphology
        Absent cavum septum pellucidum
        Enlarged fetal cisterna magna
        Fetal choroid plexus cysts
        Fetal intracranial hemorrhage
        Fetal cerebral parenchymal hemorrhage
        Fetal extra-axial hemorrhage
        Fetal intraventricular hemorrhage
        Fetal intraventricular hemorrhage with periventricular hemorrhage
        Fetal intraventricular hemorrhage with ventriculomegaly
        Fetal intraventricular hemorrhage without ventriculomegaly
        Fetal subependymal hemorrhage
        Fetal posterior fossa hemorrhage
        Fetal cerebellar hemisphere hemorrhage
        Fetal cerebellar vermis hemorrhage
        Mild fetal ventriculomegaly

Professional guidelines

PubMed

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).

Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388

Prenatal diagnosis of holoprosencephaly.

Kousa YA, du Plessis AJ, Vezina G
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):206-213. Epub 2018 May 17 doi: 10.1002/ajmg.c.31618. PMID: 29770996

Practice Bulletin No. 187: Neural Tube Defects.

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

See all (218)

Recent clinical studies

Etiology

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: 36371614 Free PMC Article

Fetal Brain Volume Predicts Neurodevelopment in Congenital Heart Disease.

Sadhwani A, Wypij D, Rofeberg V, Gholipour A, Mittleman M, Rohde J, Velasco-Annis C, Calderon J, Friedman KG, Tworetzky W, Grant PE, Soul JS, Warfield SK, Newburger JW, Ortinau CM, Rollins CK
Circulation 2022 Apr 12;145(15):1108-1119. Epub 2022 Feb 10 doi: 10.1161/CIRCULATIONAHA.121.056305. PMID: 35143287 Free PMC Article

The fetal falx cerebelli.

Whitehead MT, Vezina G
Pediatr Radiol 2020 Jun;50(7):984-989. Epub 2020 Mar 17 doi: 10.1007/s00247-020-04641-0. PMID: 32185447

Neu Laxova syndrome.

Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883

Nervous System Malformations.

Gaitanis J, Tarui T
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):72-95. doi: 10.1212/CON.0000000000000561. PMID: 29432238 Free PMC Article

See all (1506)

Diagnosis

Fetal MRI of CNS abnormalities.

Masselli G, Vaccaro Notte MR, Zacharzewska-Gondek A, Laghi F, Manganaro L, Brunelli R
Clin Radiol 2020 Aug;75(8):640.e1-640.e11. Epub 2020 Apr 26 doi: 10.1016/j.crad.2020.03.035. PMID: 32349872

Neu Laxova syndrome.

Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883

Practice Bulletin No. 187: Neural Tube Defects.

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

Fetal MRI of the central nervous system: State-of-the-art.

Manganaro L, Bernardo S, Antonelli A, Vinci V, Saldari M, Catalano C
Eur J Radiol 2017 Aug;93:273-283. Epub 2017 Jun 17 doi: 10.1016/j.ejrad.2017.06.004. PMID: 28668426

Obstetric MRI.

Levine D
J Magn Reson Imaging 2006 Jul;24(1):1-15. doi: 10.1002/jmri.20608. PMID: 16736491

See all (1976)

Therapy

Iron deficiency in pregnancy.

Georgieff MK
Am J Obstet Gynecol 2020 Oct;223(4):516-524. Epub 2020 Mar 14 doi: 10.1016/j.ajog.2020.03.006. PMID: 32184147 Free PMC Article

Practice Bulletin No. 187: Neural Tube Defects.

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

Neural tube closure and embryonic metabolism.

Yamaguchi Y, Miyazawa H, Miura M
Congenit Anom (Kyoto) 2017 Sep;57(5):134-137. Epub 2017 May 31 doi: 10.1111/cga.12219. PMID: 28295633

Impact of fetal alcohol exposure on body systems: A systematic review.

Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122

Short and long term health effects of parental tobacco smoking during pregnancy and lactation: a descriptive review.

Banderali G, Martelli A, Landi M, Moretti F, Betti F, Radaelli G, Lassandro C, Verduci E
J Transl Med 2015 Oct 15;13:327. doi: 10.1186/s12967-015-0690-y. PMID: 26472248 Free PMC Article

See all (380)

Prognosis

Single-cell atlas of the human brain vasculature across development, adulthood and disease.

Wälchli T, Ghobrial M, Schwab M, Takada S, Zhong H, Suntharalingham S, Vetiska S, Gonzalez DR, Wu R, Rehrauer H, Dinesh A, Yu K, Chen ELY, Bisschop J, Farnhammer F, Mansur A, Kalucka J, Tirosh I, Regli L, Schaller K, Frei K, Ketela T, Bernstein M, Kongkham P, Carmeliet P, Valiante T, Dirks PB, Suva ML, Zadeh G, Tabar V, Schlapbach R, Jackson HW, De Bock K, Fish JE, Monnier PP, Bader GD, Radovanovic I
Nature 2024 Aug;632(8025):603-613. Epub 2024 Jul 10 doi: 10.1038/s41586-024-07493-y. PMID: 38987604 Free 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: 36371614 Free PMC Article

Dandy-Walker Malformation.

Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220

Neu Laxova syndrome.

Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883

Nervous System Malformations.

Gaitanis J, Tarui T
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):72-95. doi: 10.1212/CON.0000000000000561. PMID: 29432238 Free PMC Article

See all (869)

Clinical prediction guides

Single-cell atlas of the human brain vasculature across development, adulthood and disease.

Abnormal development of transient fetal zones in mild isolated fetal ventriculomegaly.

Vasung L, Rollins CK, Zhang J, Velasco-Annis C, Yang E, Lin PY, Sutin J, Warfield SK, Soul J, Estroff J, Connolly S, Barnewolt C, Gholipour A, Feldman HA, Grant PE
Cereb Cortex 2023 Feb 7;33(4):1130-1139. doi: 10.1093/cercor/bhac125. PMID: 35349640 Free 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: 36371614 Free PMC Article

Fetal Brain Volume Predicts Neurodevelopment in Congenital Heart Disease.

Assembly of functionally integrated human forebrain spheroids.

Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, Fan HC, Metzler KRC, Panagiotakos G, Thom N, O'Rourke NA, Steinmetz LM, Bernstein JA, Hallmayer J, Huguenard JR, Paşca SP
Nature 2017 May 4;545(7652):54-59. Epub 2017 Apr 26 doi: 10.1038/nature22330. PMID: 28445465 Free PMC Article

See all (1086)

Recent systematic reviews

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560 Free PMC Article

Placental fetal vascular malperfusion, neonatal neurologic morbidity, and infant neurodevelopmental outcomes: a systematic review and meta-analysis.

Spinillo A, Dominoni M, Mas FD, Cesari S, Fiandrino G, Gardella B
Am J Obstet Gynecol 2023 Dec;229(6):632-640.e2. Epub 2023 Jun 12 doi: 10.1016/j.ajog.2023.06.014. PMID: 37315755

Correlation between fetal autopsy and prenatal diagnosis by ultrasound: A systematic review.

Rossi AC, Prefumo F
Eur J Obstet Gynecol Reprod Biol 2017 Mar;210:201-206. Epub 2016 Dec 29 doi: 10.1016/j.ejogrb.2016.12.024. PMID: 28061423

Impact of fetal alcohol exposure on body systems: A systematic review.

Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122

Short and long term health effects of parental tobacco smoking during pregnancy and lactation: a descriptive review.

Banderali G, Martelli A, Landi M, Moretti F, Betti F, Radaelli G, Lassandro C, Verduci E
J Transl Med 2015 Oct 15;13:327. doi: 10.1186/s12967-015-0690-y. PMID: 26472248 Free PMC Article

See all (41)

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Abnormal fetal central nervous system morphology

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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