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

Recent clinical studies

Etiology

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: 38054560Free PMC Article
Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C
Ultrasound Obstet Gynecol 2023 Jun;61(6):740-748. doi: 10.1002/uog.26140. PMID: 36484554
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
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

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

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

Prognosis

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: 38987604Free PMC Article
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
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

Clinical prediction guides

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: 38987604Free PMC Article
Turgut GT, Altunoglu U, Gulec C, Sarac Sivrikoz T, Kalaycı T, Toksoy G, Avcı Ş, Yıldırım BT, Sayın GY, Kalelioglu IH, Karaman B, Has R, Başaran S, Yuksel A, Kayserili H, Uyguner ZO
Clin Genet 2024 Jun;105(6):596-610. Epub 2024 Jan 26 doi: 10.1111/cge.14490. PMID: 38278647
Hagege R, Krajden Haratz K, Malinger G, Ben-Sira L, Leibovitz Z, Heron D, Burglen L, Birnbaum R, Valence S, Keren B, Blumkin L, Jouannic JM, Lerman-Sagie T, Garel C
Ultrasound Obstet Gynecol 2023 Jun;61(6):740-748. doi: 10.1002/uog.26140. PMID: 36484554
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
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

Recent systematic reviews

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: 38054560Free PMC Article
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
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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