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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: [email protected], 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

In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017.

Levy B, Bianchi DW, Van Mieghem T, Deprest J, Ghidini A, Chitty LS
Prenat Diagn 2018 Jan;38(2):83-90. doi: 10.1002/pd.5210. PMID: 29322541

Practice Bulletin No. 187: Neural Tube Defects.

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

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Recent clinical studies

Etiology

Fetal Brain Development in Congenital Heart Disease.

Peyvandi S, Rollins C
Can J Cardiol 2023 Feb;39(2):115-122. Epub 2022 Sep 27 doi: 10.1016/j.cjca.2022.09.020. PMID: 36174913 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 safety of methylphenidate-A scoping review and meta analysis.

Koren G, Barer Y, Ornoy A
Reprod Toxicol 2020 Apr;93:230-234. Epub 2020 Mar 10 doi: 10.1016/j.reprotox.2020.03.003. PMID: 32169555

The fetal central nervous system.

Nyberg DA
Semin Roentgenol 1990 Oct;25(4):317-33. doi: 10.1016/0037-198x(90)90063-a. PMID: 2237476

The fetal alcohol syndrome.

Clarren SK, Smith DW
N Engl J Med 1978 May 11;298(19):1063-7. doi: 10.1056/NEJM197805112981906. PMID: 347295

See all (1530)

Diagnosis

Fetal Brain Development in Congenital Heart Disease.

Peyvandi S, Rollins C
Can J Cardiol 2023 Feb;39(2):115-122. Epub 2022 Sep 27 doi: 10.1016/j.cjca.2022.09.020. PMID: 36174913 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

MRI: is there a role in obstetrics?

Hibbeln JF, Shors SM, Byrd SE
Clin Obstet Gynecol 2012 Mar;55(1):352-66. doi: 10.1097/GRF.0b013e3182487d04. PMID: 22343250

Central nervous system anomalies.

Csabay L, Szabó I, Papp C, Tóth-Pál E, Papp Z
Ann N Y Acad Sci 1998 Jun 18;847:21-45. doi: 10.1111/j.1749-6632.1998.tb08924.x. PMID: 9668696

Atelencephalic aprosencephaly.

Harris CP, Townsend JJ, Norman MG, White VA, Viskochil DH, Pysher TJ, Klatt EC
J Child Neurol 1994 Oct;9(4):412-6. doi: 10.1177/088307389400900416. PMID: 7822735

See all (2006)

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

Perinatal brain damage.

Norman MG
Perspect Pediatr Pathol 1978;4:41-92. PMID: 366551

See all (382)

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

Outcome of partial agenesis of corpus callosum.

De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L
Am J Obstet Gynecol 2024 Apr;230(4):456.e1-456.e9. Epub 2023 Oct 8 doi: 10.1016/j.ajog.2023.10.007. PMID: 37816486

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

Absent Cavum Septi Pellucidi.

Society for Maternal-Fetal Medicine (SMFM), Ward A, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B23-B26. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.180. PMID: 33168214

See all (886)

Clinical prediction guides

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

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 safety of methylphenidate-A scoping review and meta analysis.

Koren G, Barer Y, Ornoy A
Reprod Toxicol 2020 Apr;93:230-234. Epub 2020 Mar 10 doi: 10.1016/j.reprotox.2020.03.003. PMID: 32169555

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

Lethal fetal anomalies: sonographic demonstration.

Sanders RC, Blakemore K
Radiology 1989 Jul;172(1):1-6. doi: 10.1148/radiology.172.1.2662246. PMID: 2662246

See all (1101)

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

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

A systematic review and meta-analysis to determine the contribution of mr imaging to the diagnosis of foetal brain abnormalities In Utero.

Jarvis D, Mooney C, Cohen J, Papaioannou D, Bradburn M, Sutton A, Griffiths PD
Eur Radiol 2017 Jun;27(6):2367-2380. Epub 2016 Sep 21 doi: 10.1007/s00330-016-4563-4. PMID: 27655301 Free PMC Article

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

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MedGen

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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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