Ayşe Kaçar Bayram1, Mehmet Serdar Kütük2, Selim Doganay3, Mahmut Tuncay Özgün2, Hakan Gümüş1, Mustafa Başbuğ2, Sefer Kumandaş1, Mehmet Canpolat1, Hüseyin Per4. 1. Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, 38039, Melikgazi, Kayseri, Turkey. 2. Department of Obstetrics and Gynecology, Faculty of Medicine, Erciyes University, Kayseri, Turkey. 3. Pediatric Radiologist, Specialist, Kayseri, 38039, Kayseri, Turkey. 4. Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, 38039, Melikgazi, Kayseri, Turkey. huseyinper@yahoo.com.
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.
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.
Entities:
Keywords:
Children; Complete agenesis of the corpus callosum; Congenital malformations; Neurodevelopmental outcome; Prenatal diagnosis
Authors: Romina Romaniello; Filippo Arrigoni; Patrizia De Salvo; Maria Clara Bonaglia; Elena Panzeri; Maria Teresa Bassi; Cecilia Parazzini; Andrea Righini; Renato Borgatti Journal: Ann Clin Transl Neurol Date: 2021-12-01 Impact factor: 4.511