Fetal corpus callosum abnormalities: Ultrasound and magnetic resonance imaging role
Behnaz Moradi MD
Department of Radiology, Yas Complex Hospital, Tehran University of Medical Sciences, Tehran, Iran
Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran
Search for more papers by this authorReza Taherian MD, MPH
Department of Radiology, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
Search for more papers by this authorAhmad-Reza Tahmasebpour MD
Department of Radiology, Iranian Fetal Medicine Foundation, Tehran, Iran
Search for more papers by this authorMorteza Sanei Taheri MD
Department of Radiology, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Search for more papers by this authorMohammad Ali Kazemi MD
Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran
Department of Radiology, Amir Alam Hospital, Tehran University of Medical Sciences, Tehran, Iran
Search for more papers by this authorNeda Pak MD
Department of Radiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Search for more papers by this authorMahboobeh Shirazi MD
Maternal Fetal and Neonatal Research Center, Tehran University of Medical Sciences, Tehran, Iran
Search for more papers by this authorAlireza Radmanesh MD
Department of Radiology, School of Medicine, New York University, New York, New York, USA
Search for more papers by this authorOzgur Oztekin MD
Radiology Department, Izmir Education and Research Hospital, Izmir, Turkey
Search for more papers by this authorCorresponding Author
Mehran Arab-Ahmadi MD, MPH
Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran
Department of Radiology, Tehran University of Medical Sciences, Tehran, Iran
Correspondence
Mehran Arab-Ahmadi, Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Medical Imaging Center, Tehran University of Medical Sciences, Tehran, Iran.
Email: [email protected]
Search for more papers by this authorBehnaz Moradi MD
Department of Radiology, Yas Complex Hospital, Tehran University of Medical Sciences, Tehran, Iran
Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran
Search for more papers by this authorReza Taherian MD, MPH
Department of Radiology, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran
Search for more papers by this authorAhmad-Reza Tahmasebpour MD
Department of Radiology, Iranian Fetal Medicine Foundation, Tehran, Iran
Search for more papers by this authorMorteza Sanei Taheri MD
Department of Radiology, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Search for more papers by this authorMohammad Ali Kazemi MD
Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran
Department of Radiology, Amir Alam Hospital, Tehran University of Medical Sciences, Tehran, Iran
Search for more papers by this authorNeda Pak MD
Department of Radiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Search for more papers by this authorMahboobeh Shirazi MD
Maternal Fetal and Neonatal Research Center, Tehran University of Medical Sciences, Tehran, Iran
Search for more papers by this authorAlireza Radmanesh MD
Department of Radiology, School of Medicine, New York University, New York, New York, USA
Search for more papers by this authorOzgur Oztekin MD
Radiology Department, Izmir Education and Research Hospital, Izmir, Turkey
Search for more papers by this authorCorresponding Author
Mehran Arab-Ahmadi MD, MPH
Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran
Department of Radiology, Tehran University of Medical Sciences, Tehran, Iran
Correspondence
Mehran Arab-Ahmadi, Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Medical Imaging Center, Tehran University of Medical Sciences, Tehran, Iran.
Email: [email protected]
Search for more papers by this authorAbstract
The corpus callosum (CC) is the major interhemispheric commissure and its abnormalities include agenesis, hypoplasia, and hyperplasia. The CC anomalies are typically related to other central nervous system (CNS) or extra-CNS malformations. The antenatal diagnosis of complete CC agenesis is easy after mid-trimester by ultrasound (US) even in the axial plane. The non-visualization of cavum septum pellucidum and colpocephaly are critical signs in the axial view. More subtle findings (i.e., hypoplasia and partial agenesis) might also be recognized antenatally. In this review, the focus was given on the prenatal diagnosis of CC abnormalities in US and magnetic resonance imaging.
CONFLICT OF INTEREST
The authors declare no conflicts of interest.
Open Research
DATA AVAILABILITY STATEMENT
The data of this study are not publicly available due to privacy or ethical restrictions but they are available on request from the corresponding author upon reasonable request.
REFERENCES
- 1Aboitiz F, Montiel J. One hundred million years of interhemispheric communication: the history of the corpus callosum. Braz J Med Biol Res. 2003; 36(4): 409-420.
- 2Mahallati H, Sotiriadis A, Celestin C, et al. Heterogeneity in defining fetal callosal pathology: a systematic review. Ultrasound Obstet Gynecol. 2020; 58: 11-18.
- 3Pashaj S, Merz E. Detection of fetal corpus callosum abnormalities by means of 3D ultrasound. Ultraschall Med. 2016; 37(2): 185-194.
- 4Ghi T, Carletti A, Contro E, et al. Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum. Ultrasound Obstet Gynecol. 2010; 35(1): 35-41.
- 5Comstock CH, Culp D, González J, Boal DB. Agenesis of the corpus callosum in the fetus: its evolution and significance. J Ultrasound Med. 1985; 4(11): 613-616.
- 6Santirocco M, Rodó C, Illescas T, et al. Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies. J Matern-Fetal Neonatal Med. 2021; 34(3): 439-444.
- 7Rakic P, Yakovlev PI. Development of the corpus callosum and cavum septi in man. J Comp Neurol. 1968; 132(1): 45-72.
- 8Raybaud C. The corpus callosum, the other great forebrain commissures, and the septum pellucidum: anatomy, development, and malformation. Neuroradiology. 2010; 52(6): 447-477.
- 9Birnbaum R, Barzilay R, Brusilov M, Wolman I, Malinger G. The early pattern of human corpus callosum development: a transvaginal 3D neurosonographic study. Prenat Diagn. 2020; 40(10): 1239-1245.
- 10Ren T, Anderson A, Shen WB, et al. Imaging, anatomical, and molecular analysis of callosal formation in the developing human fetal brain. Anat Rec A Discov Mol Cell Evol Biol. 2006; 288(2): 191-204.
- 11Chakraborty U, Pal J. Corpus Callosum Anatomy and Dysfunction
- 12Bhuiyan PS, Rajgopal L, Shyamkishore K. Inderbir Singh's Textbook of Human Neuroanatomy:(Fundamental & Clinical). JP Medical Ltd; 2017.
- 13De León Reyes NS, Bragg-Gonzalo L, Nieto M. Development and plasticity of the corpus callosum. Development. 2020; 147(18):1-15.
- 14Gobius I, Morcom L, Suárez R, et al. Astroglial-mediated remodeling of the interhemispheric midline is required for the formation of the corpus callosum. Cell Rep. 2016; 17(3): 735-747.
- 15Lipa M, Pooh RK, Wielgoś M. Three-dimensional neurosonography - a novel field in fetal medicine. Ginekol Pol. 2017; 88(4): 215-221.
- 16Youssef A, Ghi T, Pilu G. How to image the fetal corpus callosum. Ultrasound Obstet Gynecol. 2013; 42(6): 718-720.
- 17Rosenbloom JI, Yaeger LH, Porat S. Reference ranges for corpus callosum and cavum Septi Pellucidi biometry on prenatal ultrasound: systematic review and meta-analysis. J Ultrasound Med. 2021.
- 18Harreld JH, Bhore R, Chason DP, Twickler DM. Corpus callosum length by gestational age as evaluated by fetal MR imaging. AJNR Am J Neuroradiol. 2011; 32(3): 490-494.
- 19Cignini P, Padula F, Giorlandino M, et al. Reference charts for fetal corpus callosum length: a prospective cross-sectional study of 2950 fetuses. J Ultrasound Med. 2014; 33(6): 1065-1078.
- 20Bartholmot C, Cabet S, Massoud M, et al. Prenatal imaging features and postnatal outcome of short corpus callosum: a series of 42 cases. Fetal Diagn Ther. 2021; 48(3): 217-226.
- 21Tepper R, Leibovitz Z, Garel C, Sukenik-Halevy R. A new method for evaluating short fetal corpus callosum. Prenat Diagn. 2019; 39(13): 1283-1290.
- 22Restrepo LR, López PAC, Castillo LAC, Badillo FGL. DIAGNOSTIC APPROACH TO THE ALTERATIONS OF THE CORPUS CALLOSUM: STATE OF THE ART
- 23Jeret JS, Serur D, Wisniewski K, Fisch C. Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatr Neurosci. 1985; 12(2): 101-103.
- 24Paladini D, Pastore G, Cavallaro A, Massaro M, Nappi C. Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age. Ultrasound Obstet Gynecol. 2013; 42(6): 687-690.
- 25Ward A, Monteagudo A. Absent Cavum Septi Pellucidi. Am J Obstet Gynecol. 2020; 223(6): B23-b26.
- 26Falco P, Gabrielli S, Visentin A, Perolo A, Pilu G, Bovicelli L. Transabdominal sonography of the cavum septum pellucidum in normal fetuses in the second and third trimesters of pregnancy. Ultrasound Obstet Gynecol. 2000; 16(6): 549-553.
- 27Karl K, Esser T, Heling KS, Chaoui R. Cavum septi pellucidi (CSP) ratio: a marker for partial agenesis of the fetal corpus callosum. Ultrasound Obstet Gynecol. 2017; 50(3): 336-341.
- 28Malinger G, Lev D, Oren M, Lerman-Sagie T. Non-visualization of the cavum septi pellucidi is not synonymous with agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 2012; 40(2): 165-170.
- 29Barkovich AJ, Simon EM, Walsh CA. Callosal agenesis with cyst: a better understanding and new classification. Neurology. 2001; 56(2): 220-227.
- 30Vergani P, Locatelli A, Piccoli MG, et al. Ultrasonographic differential diagnosis of fetal intracranial interhemispheric cysts. Am J Obstet Gynecol. 1999; 180(2 Pt 1): 423-428.
- 31Ben Elhend S, Belfquih H, Hammoune N, Athmane EM, Mouhsine A. Lipoma with agenesis of corpus callosum: 2 case reports and literature review. World Neurosurg. 2019; 125: 123-125.
- 32Tart RP, Quisling RG. Curvilinear and tubulonodular varieties of lipoma of the corpus callosum: an MR and CT study. J Comput Assist Tomogr. 1991; 15(5): 805-810.
- 33Ketonen LM, Hiwatashi A, Sidhu R, Westesson P-L. Pediatric Brain and Spine: an Atlas of MRI and Spectroscopy. Springer Science & Business Media; 2005.
- 34Atallah A, Lacalm A, Massoud M, Massardier J, Gaucherand P, Guibaud L. Prenatal diagnosis of pericallosal curvilinear lipoma: specific imaging pattern and diagnostic pitfalls. Ultrasound Obstet Gynecol. 2018; 51(2): 269-273.
- 35D'Antonio F, Pagani G, Familiari A, et al. Outcomes associated with isolated agenesis of the corpus callosum: a meta-analysis. Pediatrics. 2016; 138(3):425-432.
- 36Sotiriadis A, Makrydimas G. Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. Am J Obstet Gynecol. 2012; 206(4): 337.e331-337.e335.
- 37 J MD, Geetha R. Corpus Callosum Agenesis. StatPearls. StatPearls Publishing Copyright © 2021, StatPearls Publishing LLC; 2021.
- 38Schell-Apacik CC, Wagner K, Bihler M, et al. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A. 2008; 146a(19): 2501-2511.
- 39Bedeschi MF, Bonaglia MC, Grasso R, et al. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol. 2006; 34(3): 186-193.
- 40Santo S, D'Antonio F, Homfray T, et al. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 2012; 40(5): 513-521.
- 41Jiang Y, Qian YQ, Yang MM, et al. Whole-exome sequencing revealed mutations of MED12 and EFNB1 in fetal agenesis of the corpus callosum. Front Genet. 2019; 10: 1201.
- 42Romaniello R, Marelli S, Giorda R, et al. Clinical characterization, genetics, and long-term follow-up of a large cohort of patients with agenesis of the corpus callosum. J Child Neurol. 2017; 32(1): 60-71.
- 43Kumar P, Burton BK. Congenital malformations: evidence-based evaluation and management. 2008.
- 44Schwartz E, Diogo MC, Glatter S, et al. The prenatal Morphomechanic impact of agenesis of the corpus callosum on human brain structure and asymmetry. Cereb Cortex. 2021;31(9):4024-4037.
- 45Nissenkorn A, Michelson M, Ben-Zeev B, Lerman-Sagie T. Inborn errors of metabolism: a cause of abnormal brain development. Neurology. 2001; 56(10): 1265-1272.
- 46Prasad AN, Bunzeluk K, Prasad C, Chodirker BN, Magnus KG, Greenberg CR. Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism. Congenit Anom. 2007; 47(4): 125-135.
- 47Brown WS, Paul LK. The neuropsychological syndrome of agenesis of the corpus callosum. J Int Neuropsychol Soc. 2019; 25(3): 324-330.
- 48Kunpalin Y, Deprest J, Papastefanou I, et al. Incidence and patterns of abnormal corpus callosum in fetuses with isolated spina bifida aperta. Prenat Diagn. 2021; 41(8): 957-964.
- 49 Group EW, Di Mascio D, Khalil A, et al. Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: international multicenter study. Ultrasound Obstet Gynecol. 2020; 56(3): 340-347.
- 50Pashaj S, Merz E, Wellek S. Biometry of the fetal corpus callosum by three-dimensional ultrasound. Ultrasound Obstet Gynecol. 2013; 42(6): 691-698.
- 51Achiron R, Achiron A. Development of the human fetal corpus callosum: a high-resolution, cross-sectional sonographic study. Ultrasound Obstet Gynecol. 2001; 18(4): 343-347.
- 52Lerman-Sagie T, Ben-Sira L, Achiron R, et al. Thick fetal corpus callosum: an ominous sign? Ultrasound Obstet Gynecol. 2009; 34(1): 55-61.
- 53Malinger G, Zakut H. The corpus callosum: normal fetal development as shown by transvaginal sonography. AJR Am J Roentgenol. 1993; 161(5): 1041-1043.
- 54Mirzaa GM, Conway RL, Gripp KW, et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012; 158a(2): 269-291.
- 55Margariti PN, Blekas K, Katzioti FG, Zikou AK, Tzoufi M, Argyropoulou MI. Magnetization transfer ratio and volumetric analysis of the brain in macrocephalic patients with neurofibromatosis type 1. Eur Radiol. 2007; 17(2): 433-438.
- 56Kivitie-Kallio S, Norio R. Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet. 2001; 102(2): 125-135.
10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0 CAS PubMed Web of Science® Google Scholar
- 57Muscatello A, Accurti V, Conte V, et al. Comparison between two-and three-dimensional ultrasound in visualization of corpus callosum during second trimester routine scan: our experience. Fetal Diagn Ther. 2013; 33(3): 201-202.
- 58Pomar L, Baert J, Mchirgui A, et al. Comparison between two-dimensional and three-dimensional assessments of the fetal corpus callosum: reproducibility of measurements and acquisition time. J Pediatr Neurol. 2021; 19: 312-320.
- 59Pashaj S, Merz E. 3-dimensional ultrasound: how can the fetal corpus callosum be demonstrated correctly? Ultraschall Med. 2021; 42(3): 278-284.
- 60Raafat RM, Abdelrahman TM, Hafez MA. The prevalence and the adding value of fetal MRI imaging in midline cerebral anomalies. Egypt J Radiol Nucl Med. 2020; 51(1): 31.
- 61Radhouane A, Khaled N. Corpus callosum agenesis: role of fetal magnetic resonance imaging. Asian Pac J Reprod. 2016; 5(3): 263-265.
10.1016/j.apjr.2016.03.004 Google Scholar
- 62Ibrahim RS, Emad-Eldin S. Beyond fetal magnetic resonance diagnosis of corpus callosum agenesis. Egypt J Radiol Nucl Med. 2020; 51: 1-12.
- 63Ghassemi N, Rupe E, Perez M, et al. Ultrasound and magnetic resonance imaging of agenesis of the corpus callosum in fetuses: frontal horns and cavum Septi Pellucidi are clues to earlier diagnosis. J Ultrasound Med. 2020; 39(12): 2389-2403.
- 64D'Antonio F, Sileo FG. Role of prenatal magnetic resonance imaging in fetuses with isolated anomalies of the corpus callosum: a multinational study. Ultrasound Obstet Gynecol. 2021;58(1):26-33.
- 65Sileo FG, Di Mascio D, Rizzo G, et al. Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: a systematic review and meta-analysis. Acta Obstet Gynecol Scand. 2021; 100(1): 7-16.
- 66Meoded A, Poretti A, Tekes A, Flammang A, Pryde S, Huisman T. Prenatal MR diffusion tractography in a fetus with complete corpus callosum agenesis. Neuropediatrics. 2011; 42(03): 122-123.
- 67Glatter S, Kasprian G, Bettelheim D, et al. Beyond isolated and associated: a novel fetal MR imaging-based scoring system helps in the prenatal prognostication of Callosal agenesis. AJNR Am J Neuroradiol. 2021; 42(4): 782-786.
- 68Diogo MC, Glatter S, Prayer D, et al. Improved neurodevelopmental prognostication in isolated corpus callosal agenesis: fetal magnetic resonance imaging-based scoring system. Ultrasound Obstet Gynecol. 2021; 58(1): 34-41.
- 69Leombroni M, Khalil A, Liberati M, D'Antonio F. Fetal midline anomalies: diagnosis and counselling part 1: Corpus callosum anomalies. Eur J Paediatr Neurol. 2018; 22(6): 951-962.
- 70Committee opinion no.682: microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstet Gynecol. 2016; 128(6): e262-e268.
- 71Reches A, Hiersch L, Simchoni S, et al. Whole-exome sequencing in fetuses with central nervous system abnormalities. J Perinatol. 2018; 38(10): 1301-1308.