Abstract
Background
Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the central nervous system (CNS).
Objective
The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes.
Methods
The data of 75,843 fetuses were screened for evaluation of complete ACC between 2003 and 2017, and a total of 109 cases with complete ACC were included in the study. ACC was considered isolated when no additional anomalies were detected, and ACC was considered complex when additional anomalies were present.
Results
The prevalence of complete ACC was 9.4 per 10,000 live births, and the incidence was ranged from 1.8 to 16.6 per 10,000 person-years. Patients with isolated ACC had a significantly higher survival when compared with patients with complex ACC (97.4%, n = 38/39 vs. 68.8%, n = 22/32, P = 0.001).The most important cause of death were congenital heart disease and/or respiratory failure during neonatal period. Developmental and intellectual disabilities were significantly higher in the complex ACC cases (P < 0.001). Postnatal neurodevelopmental outcomes were completely normal in 79.4% of cases with isolated ACC.
Conclusions
Isolated complete ACC is usually associated with a favorable outcome. The most important prognostic factors are the presence or absence of associated congenital anomalies.
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References
Aboitiz F, Montiel J (2003) One hundred million years of interhemispheric communication: the history of the corpus callosum. Braz J Med Biol Res 36:409–420
Hinkley LB, Marco EJ, Findlay AM, Honma S, Jeremy RJ, Strominger Z, Bukshpun P, Wakahiro M, Brown WS, Paul LK, Barkovich AJ, Mukherjee P, Nagarajan SS, Sherr EH (2012) The role of corpus callosum development in functional connectivity and cognitive processing. PLoS One 7:e39804
Vasudevan C, McKechnie L, Levene M (2012) Long-term outcome of antenatally diagnosed agenesis of corpus callosum and cerebellar malformations. Semin Fetal Neonatal Med 17:295–300
Comstock CH, Culp D, González J, Boal DB (1985) Agenesis of the corpus callosum in the fetus: its evolution and significance. J Ultrasound Med 4:613–616
American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders, 4th edn. American Psychiatric Association, (DSM-IV) Washington, DC
Dobyns WB (1996) Absence makes the search grow longer. Am J Hum Genet 58:7–16
Grogono JL (1968) Children with agenesis of the corpus callosum. Dev Med Child Neurol 10:613–616
Bedeschi MF, Bonaglia MC, Grasso R, Pellegri A, Garghentino RR, Battaglia MA, Panarisi AM, Di Rocco M, Balottin U, Bresolin N, Bassi MT, Borgatti R (2006) Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol 34:186–193
Fratelli N, Papageorghiou AT, Prefumo F, Bakalis S, Homfray T, Thilaganathan B (2007) Outcome of prenatally diagnosed agenesis of the corpus callosum. Prenat Diagn 27:512–517
Jeret JS, Serur D, Wisniewski K, Fisch C (1985-1986) Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatr Neurosci 12:101–103
Glass HC, Shaw GM, Ma C, Sherr EH (2008) Agenesis of the corpus callosum in California 1983-2003: a population-based study. Am J Med Genet A 146A:2495–2500
Sotiriadis A, Makrydimas G (2012) Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. Am J Obstet Gynecol 206:337.e1-5
Craven I, Bradburn MJ, Griffiths PD (2015) Antenatal diagnosis of agenesis of the corpus callosum. Clin Radiol 70:248–253
Barkovich AJ (2002) Magnetic resonance imaging: role in the understanding of cerebral malformations. Brain and Development 24:2–12
Moutard ML, Kieffer V, Feingold J, Kieffer F, Lewin F, Adamsbaum C, Gélot A, Campistol I, Plana J, van Bogaert P, André M, Ponsot G (2003) Agenesis of corpus callosum: prenatal diagnosis and prognosis. Childs Nerv Syst 19:471–476
Alby C, Malan V, Boutaud L, Marangoni MA, Bessières B, Bonniere M, Ichkou A, Elkhartoufi N, Bahi-Buisson N, Sonigo P, Millischer AE, Thomas S, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T (2016) Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation. Birth Defects Res A Clin Mol Teratol 106:36–46
Serur D, Jeret JS, Wisniewski K (1988) Agenesis of the corpus callosum: clinical, neuroradiological and cytogenetic studies. Neuropediatrics 19:87–91
Bayram E, Topcu Y, Yis U, Cakmaci H, Kurul SH (2014) Comparison of cranial magnetic resonance imaging findings and clinical features in patients with corpus callosum abnormalities. Neuropediatrics 45:30–35
Ballardini E, Marino P, Maietti E, Astolfi G, Neville AJ (2018) Prevalence and associated factors for agenesis of corpus callosum in Emilia Romagna (1981-2015). Eur J Med Genetics 61:524–530
Caksen H, Kızılyıldız BS, Avcu S (2014) Cortical dysplasias, and corpus callosum and posterior fossa abnormalities: correlation of clinical findings with magnetic resonance imaging (MRI) characteristics. J Child Neurol 29:450–458
Nieto-Barrera M, Rodríguez-Criado G, Carballo M (1999) Corpus callosum agenesis and epileptic seizures. Rev Neurol 28:S6–S13
Moutard ML, Kieffer V, Feingold J, Lewin F, Baron JM, Adamsbaum C, Gélot A, Isapof A, Kieffer F, de Villemeur TB (2012) Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?). Prenat Diagn 32:277–283
Chadie A, Radi S, Trestard L, Charollais A, Eurin D, Verspyck E, Marret S, Haute-Normandie Perinatal Network (2008) Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum. Acta Paediatr 97:420–424
Romanielle R, Marelli S, Giorda R, Bedeschi MF, Bonaglia MC, Arrigoni F, Triulzi F, Bassi MT, Borgatti R (2017) Clinical characterization, genetics and long term follow-up of a large cohort of patients with agenesis of the corpus callosum. J Child Neurol 32:60–71
Shevell MI (2002) Clinical and diagnostic profile of agenesis of the corpus callosum. J Child Neurol 17:896–900
Kim SE, Jang H, Chang H, Sung JH, Lee J, Lee J, Choi SJ, Oh SY, Roh CR, Kim JH (2017) Clinical outcomes and neurodevelopmental outcome of prenatally diagnosed agenesis of corpus callosum in single center of Korea. Obstet Gynecol Sci 60(1):8–17
Le Doussal LF, Chadie A, Brasseur Daudry M, Verspyck E, Saugier-Veber P, Marret S Perinatal Network of Haute-Normandie (2018) Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum. Early Hum Dev 116:9–16
Kułak W, Sobaniec W, Gościk M, Oleński J, Okurowska-Zawada B (2008) Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy. Adv Med Sci 53:42–48
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Bayram, A.K., Kütük, M.S., Doganay, S. et al. An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum. Neurol Sci 41, 1521–1529 (2020). https://doi.org/10.1007/s10072-019-04224-4
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DOI: https://doi.org/10.1007/s10072-019-04224-4