Malformation of cortical development with abnormal cortex: early ultrasound diagnosis between 14 and 24 weeks of gestation.
MCD
cortex
early diagnosis
fetus
malformation of cortical development
ultrasound
Journal
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
ISSN: 1469-0705
Titre abrégé: Ultrasound Obstet Gynecol
Pays: England
ID NLM: 9108340
Informations de publication
Date de publication:
May 2023
May 2023
Historique:
revised:
09
11
2022
received:
13
10
2022
accepted:
14
11
2022
medline:
4
5
2023
pubmed:
10
12
2022
entrez:
9
12
2022
Statut:
ppublish
Résumé
To describe neurosonographic findings diagnostic or highly suggestive of the presence of malformations of cortical development involving the cortex that may be identified before 24 weeks of gestation. This was a retrospective single-center study of fetuses referred for neurosonography, during 2012-2019, with an abnormal cortical or sulcation pattern diagnosed early in the mid trimester. Stored files were analyzed for demographic data, abnormal brain findings, non-central nervous system abnormalities, final diagnosis and postnatal outcome. The study cohort included 20 fetuses, with a mean gestational age at diagnosis of 18.7 (range, 14.4-23.6) weeks, in 11 of which the diagnosis was made before 20 weeks of gestation. Reasons for referral were: midline anomaly (n = 7), ventriculomegaly (n = 4), infratentorial findings (n = 3), suspected malformation of cortical development (n = 3), 'abnormal brain' (n = 2) and skeletal dysplasia (n = 1). On neurosonography, both the sulcation pattern and the cortical layer were abnormal in four cases, only the sulcation pattern was considered abnormal in seven and only the cortical layer was abnormal in nine. Nineteen fetuses presented with associated central nervous system anomalies and six also had non-central nervous system malformations. One case was recurrent. Eighteen parents opted for termination of pregnancy, including one selective termination in a twin pregnancy, and two fetuses were liveborn. Familiarity with fetal brain anatomy and its early sonographic landmarks allowed early diagnosis of malformations involving cortical development. These patients are likely to represent the most severe cases and all had associated malformations. The presence of an abnormal cortical layer and/or abnormal overdeveloped sulci appear to be early signs of malformation of cortical development. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
559-565Informations de copyright
© 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Références
Volpe JJ. Neuronal proliferation, migration, organization, and mielinization. In Neurology of the Newborn (5th edn). Saunders Company: Philadelphia, 2008; 51-118.
Ming GL, Song H. Adult neurogenesis in the mammalian brain: significant answers and significant questions. Neuron 2011; 70: 687-702.
Chi JG, Dooling EC, Gilles FH. Gyral development of the human brain. Ann Neurol 1977; 1: 86-93.
Dorovini-Zis K, Dolman CL. Gestational development of brain. Arch Pathol Lab Med 1977; 101: 192-195.
Sarnat HB, Flores-Sarnat L. Telencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure. Pediatr Neurol 2016; 63: 23-38.
Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012; 135: 1348-1369.
Jamuar SS, Walsh CA. Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am 2015; 62: 571-585.
Yaron Y, Ofen Glassner V, Mory A, Zunz Henig N, Kurolap A, Bar Shira A, Brabbing Goldstein D, Marom D, Ben Sira L, Baris Feldman H, Malinger G, Krajden Haratz K, Reches A. Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies. Ultrasound Obstet Gynecol 2022; 60: 59-67.
Malinger G, Lev D, Zahalka N, Ben Aroia Z, Watemberg N, Kidron D, Sira LB, Lerman-Sagie T. Fetal cytomegalovirus infection of the brain: the spectrum of sonographic findings. AJNR Am J Neuroradiol 2003; 24: 28-32.
Oliveira Melo AS, Malinger G, Ximenes R, Szejnfeld PO, Alves Sampaio S, Bispo de Filippis AM. Zika virus intrauterine infection causes fetal brain abnormality and microcephaly: tip of the iceberg? Ultrasound Obstet Gynecol 2016; 47: 6-7.
Montenegro MA, Guerreiro MM, Lopes-Cendes I, Guerreiro CA, Cendes F. Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development. Arch Neurol 2002; 59: 1147-1153.
Palmini A, Andermann E, Andermann F. Prenatal events and genetic factors in epileptic patients with neuronal migration disorders. Epilepsia 1994; 35: 965-973.
Leventer RJ, Phelan EM, Coleman LT, Kean MJ, Jackson GD, Harvey AS. Clinical and imaging features of cortical malformations in childhood. Neurology 1999; 53: 715-722.
Gelot A, Billette de Villemeur T, Bordarier C, Ruchoux MM, Moraine C, Ponsot G. Developmental aspects of type II lissencephaly. Comparative study of dysplastic lesions in fetal and post-natal brains. Acta Neuropathol 1995; 89: 72-84.
Viot G, Sonigo P, Simon I, Simon-Bouy B, Chadeyron F, Beldjord C, Tantau J, Martinovic J, Esculpavit C, Brunelle F, Munnich A, Vekemans M, Encha-Razavi F. Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. Am J Med Genet A 2004; 126A: 123-128.
Righini A, Parazzini C, Doneda C, Avagliano L, Arrigoni F, Rustico M, Consonni D, Re TJ, Bulfamante G, Triulzi F. Early formative stage of human focal cortical gyration anomalies: fetal MRI. AJR Am J Roentgenol 2012; 198: 439-447.
Oh KY, Kennedy AM, Frias AE Jr, Byrne JL. Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations. Radiographics 2005; 25: 647-657.
Garel C. MRI of the Fetal Brain. Normal Development and Cerebral Pathologies. Springer: Berlin, 2004.
Righini A, Cesaretti C, Conte G, Parazzini C, Frassoni C, Bulfamante G, Avagliano L, Inverardi F, Izzo G, Rustico M. Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging. Neuroradiology 2016; 58: 293-300.
Righini A, Frassoni C, Inverardi F, Parazzini C, Mei D, Doneda C, Re TJ, Zucca I, Guerrini R, Spreafico R, Triulzi F. Bilateral cavitations of ganglionic eminence: a fetal MR imaging sign of halted brain development. AJNR Am J Neuroradiol 2013; 34: 1841-1845.
Malinger G, Lerman-Sagie T, Watemberg N, Rotmensch S, Lev D, Glezerman M. A normal second-trimester ultrasound does not exclude intracranial structural pathology. Ultrasound Obstet Gynecol 2002; 20: 51-56.
Alvarez RM, Garcia-Diaz L, Marquez J, Fajardo M, Rivas E, Garcia-Lozano JC, Antinolo G. Hemimegalencephaly: prenatal diagnosis and outcome. Fetal Diagn Ther 2011; 30: 234-238.
Kojima K, Suzuki Y, Seki K, Yamamoto T, Sato T, Tanaka T, Suzumori K. Prenatal diagnosis of lissencephaly (type II) by ultrasound and fast magnetic resonance imaging. Fetal Diagn Ther 2002; 17: 34-36.
Fong KW, Ghai S, Toi A, Blaser S, Winsor EJ, Chitayat D. Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging. Ultrasound Obstet Gynecol 2004; 24: 716-723.
Teixeira SR, Blondiaux E, Cassart M, Couture A, Moutard ML, Whalen S, Gelot A, Ducou le Pointe H, Garel C, Grrif S. Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. Prenat Diagn 2015; 35: 337-341.
Malinger G, Kidron D, Schreiber L, Ben-Sira L, Hoffmann C, Lev D, Lerman-Sagie T. Prenatal diagnosis of malformations of cortical development by dedicated neurosonography. Ultrasound Obstet Gynecol 2007; 29: 178-191.
Malinger G, Lev D, Lerman-Sagie T. Normal and abnormal fetal brain development during the third trimester as demonstrated by neurosonography. Eur J Radiol 2006; 57: 226-232.
Paladini D, Malinger G, Birnbaum R, Monteagudo A, Pilu G, Salomon LJ, Timor-Tritsch IE. ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography. Ultrasound Obstet Gynecol 2021; 57: 661-671.
Cohen-Sacher B, Lerman-Sagie T, Lev D, Malinger G. Developmental milestones of the fetal cerebral cortex. A longitudinal sonographic study. Ultrasound Obstet Gynecol 2006; 27: 494-502.
Malinger G, Birnbaum R, Haratz KK. Dedicated neurosonography for recognition of pathology associated with mild-to-moderate ventriculomegaly. Ultrasound Obstet Gynecol 2020; 56: 319-323.
Lacalm A, Nadaud B, Massoud M, Putoux A, Gaucherand P, Guibaud L. Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. Ultrasound Obstet Gynecol 2016; 47: 117-122.
Kostovic I, Judas M, Rados M, Hrabac P. Laminar organization of the human fetal cerebrum revealed by histochemical markers and magnetic resonance imaging. Cereb Cortex 2002; 12: 536-544.
Devisme L, Bouchet C, Gonzales M, Alanio E, Bazin A, Bessieres B, Bigi N, Blanchet P, Bonneau D, Bonnieres M, Bucourt M, Carles D, Clarisse B, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Delezoide AL, Guimiot F, Joubert M, Laurent N, Laquerriere A, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard F, Perez MJ, Rouleau C, Triau S, Attie-Bitach T, Vuillaumier-Barrot S, Seta N, Encha-Razavi F. Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain 2012; 135: 469-482.
Glenn OA, Cuneo AA, Barkovich AJ, Hashemi Z, Bartha AI, Xu D. Malformations of cortical development: diagnostic accuracy of fetal MR imaging. Radiology 2012; 263: 843-855.
Pooh RK, Machida M, Nakamura T, Uenishi K, Chiyo H, Itoh K, Yoshimatsu J, Ueda H, Ogo K, Chaemsaithong P, Poon LC. Increased Sylvian fissure angle as early sonographic sign of malformation of cortical development. Ultrasound Obstet Gynecol 2019; 54: 199-206.
Montaguti E, Bellussi F, Rizzo R, Livi A, Salsi G, Toni F, Maffei M, Lenzi J, Bonasoni MP, Pilu G. Sylvian fossa sonographic measurements in 18 to 23 weeks fetuses with and without cerebral malformations. Am J Obstet Gynecol MFM 2021; 3: 100357.
Timor-Tritsch IE, Monteagudo A, Pilu G, Malinger G. Malformations of cortical development. In Ultrasonography of the Prenatal Brain (3rd edn). McGraw Hill: New York, 2012; 247-282.
Hori A. Precocious cerebral development associated with agenesis of the corpus callosum in mid-fetal life: a transient syndrome? Acta Neuropathol 1996; 91: 120-125.
Hevner RF. The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol 2005; 110: 208-221.
Malinger G, Lev D, Lerman-Sagie T. Abnormal sulcation as an early sign for migration disorders. Ultrasound Obstet Gynecol 2004; 24: 704-705.
Cagneaux M, Lacalm A, Huissoud C, Allias F, Ville D, Massardier J, Guibaud L. Agenesis of the corpus callosum with interhemispheric cyst, associated with aberrant cortical sulci and without underlying cortical dysplasia. Ultrasound Obstet Gynecol 2013; 42: 603-605.
Sarnat HB, Flores-Sarnat L. Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma. Brain Dev 2015; 37: 553-562.