Francesco D'Antonio1, Giorgio Pagani2, Alessandra Familiari3, Asma Khalil4, Tally-Lerman Sagies5, Gustavo Malinger6, Zvi Leibovitz7, Catherine Garel8, Marie Laure Moutard9, Gianluigi Pilu10, Amar Bhide4, Ganesh Acharya11, Martina Leombroni12, Lamberto Manzoli13, Aris Papageorghiou4, Federico Prefumo14. 1. Department of Clinical Medicine, Faculty of Health Sciences, UiT - The Artic University of Norway, Tromsø, Norway; francesco.dantonio@uit.no. 2. Department of Obstetrics and Gynecology, Fondazione Poliambulanza, Brescia, Italy; 3. Department of Maternal-Fetal Medicine, Catholic University of the Sacred Heart, Rome, Italy; 4. Fetal Medicine Unit, Division of Developmental Sciences, St. George's University of London, London, United Kingdom; 5. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Fetal Neurology Clinic and Paediatric Neurology Unit, Wolfson Medical Centre, Holon, Israel; 6. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; GYN Ultrasound Division, Tel Aviv Medical Center, Tel Aviv, Israel; 7. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Fetal Neurology Clinic and Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; 8. Service de Radiologie, Hôpital d'Enfants Armand-Trousseau, Paris, France; 9. Service de Neuropédiatrie, Hôpital Trousseau, Hôpitaux Universitaires de l'Est Parisien, Université Pierre et Marie Curie, Paris, France; 10. Department of Obstetrics and Gynaecology, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy; 11. Department of Clinical Medicine, Faculty of Health Sciences, UiT - The Artic University of Norway, Tromsø, Norway; 12. Department of Obstetrics and Gynecology, University of Chieti-Pescara, Chieti, Italy; 13. Department of Medicine and Aging Sciences, University of Chieti-Pescara, Chieti, Italy; EMISAC, Ce.S.I. Biotech, Chieti, Italy; and. 14. Department of Obstetrics and Gynaecology, University of Brescia, Brescia, Italy.
Abstract
CONTEXT: Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging. OBJECTIVES: To ascertain the outcome in fetuses with isolated complete ACC and partial ACC. DATA SOURCES: Medline, Embase, CINAHL, and Cochrane databases. STUDY SELECTION: Studies reporting a prenatal diagnosis of ACC. The outcomes observed were: chromosomal abnormalities at standard karyotype and chromosomal microarray (CMA) analysis, additional anomalies detected only at prenatal MRI and at postnatal imaging or clinical evaluation, concordance between prenatal and postnatal diagnosis and neurodevelopmental outcome. DATA EXTRACTION: Meta-analyses of proportions were used to combine data. RESULTS: Twenty-seven studies were included. In cACC, chromosomal anomalies occurred in 4.81% (95% confidence interval [CI], 2.2-8.4) of the cases. Gross and fine motor control were abnormal in 4.40% (95% CI, 0.6-11.3) and 10.98% (95% CI, 4.1-20.6) of the cases, respectively, whereas 6.80% (95% CI, 1.7-14.9) presented with epilepsy. Abnormal cognitive status occurred in 15.16% (95% CI, 6.9-25.9) of cases. In partial ACC, the rate of chromosomal anomalies was 7.45% (95% CI, 2.0-15.9). Fine motor control was affected in 11.74% (95% CI, 0.9-32.1) of the cases, and 16.11% (95% CI, 2.5-38.2) presented with epilepsy. Cognitive status was affected in 17.25% (95% CI, 3.0-39.7) of cases. LIMITATIONS: Different neurodevelopmental tools and time of follow-up of the included studies. CONCLUSIONS: Children wih a prenatal diagnosis of isolated ACC show several degrees of impairment in motor control, coordination, language, and cognitive status. However, in view of the large heterogeneity in outcomes measures, time at follow-up, and neurodevelopmental tools used, large prospective studies are needed to ascertain the actual occurrence of neuropsychological morbidity of children with isolated ACC.
CONTEXT: Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging. OBJECTIVES: To ascertain the outcome in fetuses with isolated complete ACC and partial ACC. DATA SOURCES: Medline, Embase, CINAHL, and Cochrane databases. STUDY SELECTION: Studies reporting a prenatal diagnosis of ACC. The outcomes observed were: chromosomal abnormalities at standard karyotype and chromosomal microarray (CMA) analysis, additional anomalies detected only at prenatal MRI and at postnatal imaging or clinical evaluation, concordance between prenatal and postnatal diagnosis and neurodevelopmental outcome. DATA EXTRACTION: Meta-analyses of proportions were used to combine data. RESULTS: Twenty-seven studies were included. In cACC, chromosomal anomalies occurred in 4.81% (95% confidence interval [CI], 2.2-8.4) of the cases. Gross and fine motor control were abnormal in 4.40% (95% CI, 0.6-11.3) and 10.98% (95% CI, 4.1-20.6) of the cases, respectively, whereas 6.80% (95% CI, 1.7-14.9) presented with epilepsy. Abnormal cognitive status occurred in 15.16% (95% CI, 6.9-25.9) of cases. In partial ACC, the rate of chromosomal anomalies was 7.45% (95% CI, 2.0-15.9). Fine motor control was affected in 11.74% (95% CI, 0.9-32.1) of the cases, and 16.11% (95% CI, 2.5-38.2) presented with epilepsy. Cognitive status was affected in 17.25% (95% CI, 3.0-39.7) of cases. LIMITATIONS: Different neurodevelopmental tools and time of follow-up of the included studies. CONCLUSIONS:Children wih a prenatal diagnosis of isolated ACC show several degrees of impairment in motor control, coordination, language, and cognitive status. However, in view of the large heterogeneity in outcomes measures, time at follow-up, and neurodevelopmental tools used, large prospective studies are needed to ascertain the actual occurrence of neuropsychological morbidity of children with isolated ACC.
Authors: Ashley P L Marsh; Timothy J Edwards; Charles Galea; Helen M Cooper; Elizabeth C Engle; Saumya S Jamuar; Aurélie Méneret; Marie-Laure Moutard; Caroline Nava; Agnès Rastetter; Gail Robinson; Guy Rouleau; Emmanuel Roze; Megan Spencer-Smith; Oriane Trouillard; Thierry Billette de Villemeur; Christopher A Walsh; Timothy W Yu; Delphine Heron; Elliott H Sherr; Linda J Richards; Christel Depienne; Richard J Leventer; Paul J Lockhart Journal: Hum Mutat Date: 2017-11-11 Impact factor: 4.878
Authors: Marcelo Augusto Duarte Silveira; Antônio Carlos Seguro; Jukelson Barbosa da Silva; Marcia Fernanda Arantes de Oliveira; Victor Faria Seabra; Bernardo Vergara Reichert; Camila Eleutério Rodrigues; Lucia Andrade Journal: Am J Case Rep Date: 2018-11-12
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