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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]

Professional guidelines

PubMed

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
Haratz KK, Lerman-Sagie T
Eur J Paediatr Neurol 2018 Nov;22(6):1016-1026. Epub 2018 Jul 6 doi: 10.1016/j.ejpn.2018.06.011. PMID: 30448280
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

Recent clinical studies

Etiology

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
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
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Gaitanis J, Tarui T
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):72-95. doi: 10.1212/CON.0000000000000561. PMID: 29432238Free PMC Article
Ticconi C, Pietropolli A, Rezza G
Pathog Glob Health 2016 Oct-Dec;110(7-8):262-268. Epub 2016 Sep 30 doi: 10.1080/20477724.2016.1234804. PMID: 27690200Free PMC Article

Diagnosis

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
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Edwards L, Hui L
Semin Fetal Neonatal Med 2018 Apr;23(2):102-111. Epub 2017 Dec 9 doi: 10.1016/j.siny.2017.11.005. PMID: 29233624
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
Levine D
J Magn Reson Imaging 2006 Jul;24(1):1-15. doi: 10.1002/jmri.20608. PMID: 16736491

Therapy

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: 32184147Free PMC Article
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
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
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: 26472248Free PMC Article
Levine D
J Magn Reson Imaging 2006 Jul;24(1):1-15. doi: 10.1002/jmri.20608. PMID: 16736491

Prognosis

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
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
Gaitanis J, Tarui T
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):72-95. doi: 10.1212/CON.0000000000000561. PMID: 29432238Free PMC Article
Edwards L, Hui L
Semin Fetal Neonatal Med 2018 Apr;23(2):102-111. Epub 2017 Dec 9 doi: 10.1016/j.siny.2017.11.005. PMID: 29233624
Traisrisilp K, Srisupundit K, Suwansirikul S, Norasetthada T, Kosarat S, Tongsong T
J Clin Ultrasound 2018 Sep;46(7):487-493. Epub 2017 Nov 28 doi: 10.1002/jcu.22566. PMID: 29193240

Clinical prediction guides

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
Van den Veyver IB
Prenat Diagn 2019 Aug;39(9):666-678. Epub 2019 Jul 28 doi: 10.1002/pd.5520. PMID: 31353536
Chimelli L, Avvad-Portari E
Childs Nerv Syst 2018 Jan;34(1):95-99. Epub 2017 Nov 22 doi: 10.1007/s00381-017-3651-3. PMID: 29167994
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: 28445465Free PMC Article
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

Recent systematic reviews

Powel JE, Sham CE, Spiliopoulos M, Ferreira CR, Rosenthal E, Sinkovskaya ES, Brown S, Jelin AC, Al-Kouatly HB
Clin Genet 2022 Oct;102(4):262-287. Epub 2022 Jul 21 doi: 10.1111/cge.14188. PMID: 35802600Free PMC Article
Robinson N, Mayorquin Galvan EE, Zavala Trujillo IG, Zavala-Cerna MG
Rev Med Virol 2018 Sep;28(5):e1985. Epub 2018 May 15 doi: 10.1002/rmv.1985. PMID: 29761581
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
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
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: 26472248Free PMC Article

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