An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum.
Agenesis of Corpus Callosum
/ diagnostic imaging
Child
Congenital Abnormalities
/ epidemiology
Developmental Disabilities
/ epidemiology
Female
Fetal Diseases
/ epidemiology
Heart Defects, Congenital
/ mortality
Humans
Infant, Newborn
Intellectual Disability
/ epidemiology
Magnetic Resonance Imaging
Male
Pregnancy
Prenatal Diagnosis
Respiratory Insufficiency
/ mortality
Retrospective Studies
Children
Complete agenesis of the corpus callosum
Congenital malformations
Neurodevelopmental outcome
Prenatal diagnosis
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
05
09
2019
accepted:
22
12
2019
pubmed:
24
1
2020
medline:
27
2
2021
entrez:
24
1
2020
Statut:
ppublish
Résumé
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). The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes. 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. 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. Isolated complete ACC is usually associated with a favorable outcome. The most important prognostic factors are the presence or absence of associated congenital anomalies.
Sections du résumé
BACKGROUND
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
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
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
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
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.
Identifiants
pubmed: 31970575
doi: 10.1007/s10072-019-04224-4
pii: 10.1007/s10072-019-04224-4
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1521-1529Références
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
doi: 10.1590/S0100-879X2003000400002
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
doi: 10.1371/journal.pone.0039804
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
doi: 10.1016/j.siny.2012.07.001
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
doi: 10.7863/jum.1985.4.11.613
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
pubmed: 8554070
pmcid: 1914936
Grogono JL (1968) Children with agenesis of the corpus callosum. Dev Med Child Neurol 10:613–616
doi: 10.1111/j.1469-8749.1968.tb02944.x
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
doi: 10.1016/j.pediatrneurol.2005.08.008
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
doi: 10.1002/pd.1719
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
doi: 10.1159/000120229
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
doi: 10.1002/ajmg.a.32418
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
doi: 10.1016/j.ajog.2011.12.024
Craven I, Bradburn MJ, Griffiths PD (2015) Antenatal diagnosis of agenesis of the corpus callosum. Clin Radiol 70:248–253
doi: 10.1016/j.crad.2014.11.004
Barkovich AJ (2002) Magnetic resonance imaging: role in the understanding of cerebral malformations. Brain and Development 24:2–12
doi: 10.1016/S0387-7604(01)00327-8
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
doi: 10.1007/s00381-003-0781-6
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
doi: 10.1002/bdra.23472
Serur D, Jeret JS, Wisniewski K (1988) Agenesis of the corpus callosum: clinical, neuroradiological and cytogenetic studies. Neuropediatrics 19:87–91
doi: 10.1055/s-2008-1052407
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
pubmed: 23888465
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
doi: 10.1016/j.ejmg.2018.06.004
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
doi: 10.1177/0883073813482771
Nieto-Barrera M, Rodríguez-Criado G, Carballo M (1999) Corpus callosum agenesis and epileptic seizures. Rev Neurol 28:S6–S13
pubmed: 10778480
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
doi: 10.1002/pd.3824
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
doi: 10.1111/j.1651-2227.2008.00688.x
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
doi: 10.1177/0883073816664668
Shevell MI (2002) Clinical and diagnostic profile of agenesis of the corpus callosum. J Child Neurol 17:896–900
doi: 10.1177/08830738020170122601
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
doi: 10.5468/ogs.2017.60.1.8
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
doi: 10.1016/j.earlhumdev.2017.10.004
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
doi: 10.2478/v10039-008-0006-z