MRI在胎儿大脑皮质发育畸形产前诊断中的价值

doi:10.12117/jccmi.2019.07.006

摘要
图/表
参考文献(40)
相关文章 (15)

全文: PDF (0 KB) HTML (1 KB)
输出: BibTeX | EndNote (RIS)

摘要目的：总结胎儿大脑皮层发育畸形（MCD）的MRI特点，以提高胎儿MCD诊断及鉴别诊断能力。方法：回顾性分析21例胎儿MCD的MRI表现，总结MRI影像特征及与胎龄关系。结果：21例异常胎儿，半侧巨脑回畸形2例，脑室旁结节性灰质异位3例，无脑回畸形6例，先天性肌营养不良2例，多小脑回畸形2例，脑裂畸形5例，原发性小头畸形1例。结论：MRI是诊断胎儿MCD的最佳影像学方法，脑裂畸形、先天性肌营养不良、半侧巨脑回畸形中孕期可诊断，无脑回畸形、多小脑回及脑室旁结节性灰质异位、原发性小头畸形需孕晚期或产后MRI复查明确诊断。

	服务

	把本文推荐给朋友
	加入我的书架
	加入引用管理器
	E-mail Alert
	RSS
	作者相关文章
	康敏
	陶元萍
	王世琦
	邹雪瑾
	丁立

关键词 ：大脑皮质, 胎儿发育, 畸形, 磁共振成像

Abstract：Objective: Summarizing the MRI features of fetal cerebral cortex development malformation(MCD) to improve the ability of diagnosis and differential diagnosis. Methods: Retrospectively analyzing the MRI findings of 21 patients with MCD, and summarizing the relationship of the features of MRI and gestational age. Results: Twenty-one abnormal fetuses: 2 cases of hemimegyria, 3 cases of paraventricular nodular ectopia of gray matter(PNH), 6 cases of anencephaly, 2 cases of congenital muscular dystrophy(CMD), 2 cases of polymicrogyria(PMG), 5 cases of schizencephaly, and 1 case of primary microcephary. Conclusion: MRI is the best imaging method to diagnose fetal MCD. Schizencephaly, CMD and hemimegyria can often be diagnosed in the second-trimester; anencephaly, PMG, PNH and microcephalusare more likely to be diagnosed in the third-trimester or postpartum, and confirmed by follow-up MRI.

Key words： Cerebral cortex Fetal development Abnormalities Magnetic resonance imaging

收稿日期: 2019-02-13

PACS:	Ｒ714.53
	Ｒ445.2

通讯作者: 陶元萍，四川省妇幼保健院放射科，610041。E-mail：261012550@qq.com

作者简介: 康敏（1971-），女，四川成都人，主任医师。E-mail：1073297610@qq.com

引用本文:

康敏，陶元萍，王世琦，邹雪瑾，丁立. MRI在胎儿大脑皮质发育畸形产前诊断中的价值[J]. 中国临床医学影像杂志, 2019, 30(7): 481-486.
KANG Min, TAO Yuan-ping, WANG Shi-qi, ZOU Xue-jin, DING Li. The value of prenatal diagnosis of fetal malformation of cortical development by MRI. JOURNAL OF CHINA MEDICAL IMAGING, 2019, 30(7): 481-486.

链接本文:

http://www.jccmi.com.cn/CN/10.12117/jccmi.2019.07.006 或 http://www.jccmi.com.cn/CN/Y2019/V30/I7/481

[1]Malinger G, Lev D, Lerman-Sagie T. Normal and abnormal fetal brain development during the third trimester as demonstrated by neurosonography[J]. Eur J Radiol, 2006, 57(2): 226-232. [2]Blondiaux E, Garel C. Fetal cerebral imaging-ultrasound VS MRI—an update[J]. Acta Radiol, 2013, 54(9): 1046-1054. [3]Guibaud L, Selleret L, Larroche JC, et al. Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data[J]. Ultrasound Obstet Gynecol, 2008, 32(1): 50-60. [4]Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes[J]. Lancet Neurol, 2014, 13(7): 710-726. [5]Abdel Razek AA, Kandell AY, Elsorogy LG, et al. Disorders of cortical formation: MR imaging features[J]. AJNR, 2009, 30(1): 4-11. [6]Kabat J, Krol P. Focal cortical dysplasia-review[J]. Pol J Radiol, 2012, 77(2): 35-43． [7]Gedikbasi A, Oztarhan K, Ulker V, et al． Prenatal sonographic diagnosis of tuberous[J]. Clin Ultrasound, 2011, 39(7): 427-430． [8]Barkovich AI. 儿科神经影像学（第四版）[M]. 肖江喜，袁新宇，译. 北京：中国科技出版社，2009：238-272. [9]Parrini E, Ramazzotti A, Dobyns WB, et al. Eriventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations[J]. Brain, 2006, 129(7): 1892-1906. [10]Chang BS, Apse KA, Caraballo R, et al. A famillial syndrome of unilateral polymicrogyria affecting the right hemisphere[J]. Neurology, 2006, 66(1): 133-135. [11]Poirier K, Keays DA, Francis F, et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A(TUBA1A)[J]. Hum Mutat, 2007, 28(11): 1055-1064. [12]Cardoso C, Boys A, Parrini E, et al. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion[J]. Neurology, 2009, 72(9): 784-792. [13]王音，陶国伟，耿群，等. 超声联合MRI诊断胎儿大脑皮层发育异常的研究[J]. 山东大学学报：医学版，2014，52（1）：57-61. [14]马喆，王音，刘韶平，等. 胎儿大脑皮层发育异常的产前超声诊断[J]. 中华超声影像学杂志，2014，23（9）：804-806. [15]Abdel Razek AA, Kandell AY, Elsorogy LG, et al. Disorder of cortical formation: MR imaging features[J]. Am J Neuroradiol, 2009, 30(1): 4-11. [16]Barkovich AJ, Guerrini R, Kuzniecky RI, et al. A developmental and genetic classification for malformations of cortical development: update 2012[J]. Brain, 2012, 135(5): 1348-1369. [17]Malinger G, Lev D, Lerman-Sagie T. Abnormal sulcation as an early sign for migration disorders[J]. Ultrasound Obstet Gynecol, 2004, 24(7): 704-705. [18]Malinger G, Kidron D, Schreiber L, et al. Prenatal diagnosis of malformations of cortical development by dedicated neurosonography[J]. Ultrasound Obstet Gynecol, 2007, 29(2): 178-191. [19]Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes [J]. Lancet Neurol, 2014, 13(7): 710-726. [20]Guibaud L. Contribution of fetal cerebral MRI for diagnosis ofstructural anomalies[J]. Prenat Diagn, 2009, 29(4): 420-433. [21]Fong KW, Ghai S, Toi A, et al. Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging[J]. Ultrasound Obstet Gynecol, 2004, 24(7): 716-723. [22]Kiho Im, Guimaraes A, Kim Y, et al. Quantitative folding pattern analysis of early primary sulci in human fetuses with brain abnormalities[J]. Am J Neuroradiol, 2017, 38(7): 1449-1455. [23]Malinger G, Lev D, Lerman-Sagie T. Normal and abnormal fetal brain development during the third trimester as demonstrated by neurosonography[J]. Eur J Radiol, 2006, 57(2): 226-232. [24]王硕，许执恒. 大脑皮层发育畸形及分子遗传机理研究进展[J]. 中国细胞生物学学报，2011，33（8）：837-846. [25]斯考特.W.阿特拉斯. 中枢神经系统成像（第三版）[M]. 李坤成，译. 郑州：河南科技技术出版社，2000：354-358. [26]Lerman-Sagie T, Leibovitz Z. Malformations of cortical development: from postnatal to fetal imaging[J]. Can J Neurol Sci, 2016, 43(5): 611-618. [27]Leventer RJ, Phelan EM, Coleman LT, et al. Clinical and imaging features of cortical malformations in childhood[J]. Neurology, 1999, 53(4): 715-722. [28]Saltzman DH, Krauss CM, Goldman JM, et al. Prenatal diagnosis of lissencephaly[J]. Prenat Diagn, 1991, 11(3): 139-143. [29]Greco P, Resta M, Vimercati A, et al. Antenatal diagnosis of isolated lissencephaly by ultrasound and magnetic resonance imaging[J]. Ultrasound Obstet Gynecol, 1998, 12(4): 276-279. [30]Williams F, Griffiths PD. In utero MR imaging in fetuses at high risk of lissencephaly[J]. Br J Radiol, 2017, 22(5): 1259-1265. [31]Fogliarini C, Chaumoitre K, Chapon F, et al. Assessment of cortical maturation with prenatal MRI. Part I: normal cortical maturation[J]. Eur Radiol, 2005, 15(8): 1671-1685. [32]Barkovich AJ, Kuzniecky RI, Dobyns WB. Radiologic classification of malformations of cortical development[J]. Curr Opin Neurol, 2001, 14(2): 145-149. [33]Guerrini R, Dobyns WB, Barkovich AJ. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options[J]. Trends Neurol, 2008, 31(3): 154-162. [34]Mirzaa GM, Paciorkowski AR. Introduction: brain malformations[J]. Am J Med Genet C Semin Med Genet, 2014, 166C: 117-123. [35]Stutterd CA, Leventer RJ. Polymicrogyria: a common and heterogeneous malformation of cortical development[J]. Am J Med Genet C Semin Med Genet, 2014, 166C: 227-239. [36]Im K, Paldino MJ, Poduri A. Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis[J]. Neuroimage, 2014, 1(86): 182-193. [37]Andrade CS, Leite Cda C. Malformations of cortical development: current concepts and advanced neuroimaging review[J]. Arq Neuropsiquiatr, 2011, 69(1): 130-138. [38]姚远，李胜利，文华轩. 半侧巨脑回产前超声诊断并文献回顾[J]. 中华医学超声杂志：电子版，2009，6（5）：887-892. [39]吕芊，赵世怡. 胎儿半侧巨脑回畸形超声表现一例：附文献复习诊断并文献回顾[J]. 中华医学超声杂志：电子版，2010，7（5）：884-887. [40]Balaji R, Kesavadas C, Ramachandran K, et al. Longitudinal CT and MRI appearances of hemimegalencephaly in a patient with tuberous sclerosis[J]. Childs Nerv Syst, 2008, 24(3): 397-401.