{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T05:15:44Z","timestamp":1793164544110,"version":"4.5.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T00:00:00Z","timestamp":1722297600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T00:00:00Z","timestamp":1722297600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100003392","name":"Fujian Provincial Natural Science Foundation","doi-asserted-by":"crossref","award":["2021J01407"],"award-info":[{"award-number":["2021J01407"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Objective<\/jats:title>\n            <jats:p>Agenesis of the corpus callosum (ACC) is an anomaly that can occur in fetuses during pregnancy. However, there is currently no treatment for fetal ACC. Therefore, we conducted a retrospective analysis of obstetric outcomes of fetal ACC to explore the relationship between fetal ACC phenotypes and chromosomal copy number abnormalities.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and results<\/jats:title>\n            <jats:p>Amniotic fluid or umbilical cord blood were extracted from pregnant women with fetal ACC for karyotype analysis and chromosomal microarray analysis (CMA). Among the 48 fetuses with ACC, 22 (45.8%, 22\/48) had isolated ACC, and 26 (54.2%, 26\/48) had non-isolated ACC. Chromosomal abnormalities were detected via karyotype analysis in four cases. In addition to the four cases of pathogenic copy number variations (CNVs) detected using karyotype analysis, CMA revealed two cases of pathogenic CNVs with 17q12 microduplication and 16p12.2 microdeletion. The obstetric outcomes of 26 patients with non-isolated ACC were followed up, and 17 chose to terminate the pregnancy. In addition, seven of the nine cases with non-isolated ACC showed no obvious abnormality during postnatal follow-up, whereas only one case with normal CMA showed an abnormal phenotype at six months. Of the 22 patients with isolated ACC, six chose to terminate the pregnancy. Postnatal follow-up of 16 isolated ACC cases revealed only one with benign CNV, presenting with intellectual disability.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Pregnant women with fetal ACC should be offered prenatal CMA, particularly non-isolated ACC. Patients with ACC should undergo prolonged postnatal follow-up, and appropriate intervention should be provided if necessary.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s11033-024-09821-x","type":"journal-article","created":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T18:03:44Z","timestamp":1722362624000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up"],"prefix":"10.1007","volume":"51","author":[{"given":"Meiying","family":"Cai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meimei","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanting","family":"Que","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailong","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liangpu","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,30]]},"reference":[{"key":"9821_CR1","doi-asserted-by":"publisher","first-page":"199","DOI":"10.3174\/ajnr.A7757","volume":"44","author":"T Weissbach","year":"2023","unstructured":"Weissbach T, Massarwa A et al (2023) Early fetal corpus callosum: demonstrating normal growth andDetecting pathologies in early pregnancy. Am J Neuroradiol 44:199\u2013204","journal-title":"Am J Neuroradiol"},{"key":"9821_CR2","doi-asserted-by":"crossref","unstructured":"De Le\u00f3n Reyes NS, Bragg-Gonzalo L, Nieto M (2020) Development and plasticity of the corpus callosum. Development 147:dev189738","DOI":"10.1242\/dev.189738"},{"key":"9821_CR3","doi-asserted-by":"crossref","unstructured":"Shwe WH, Schlatterer SD et al (2022) Outcome of agenesis of the corpus callosum diagnosed by fetal MRI. PediatrNeuro l135:44\u201351","DOI":"10.1016\/j.pediatrneurol.2022.07.007"},{"key":"9821_CR4","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1002\/jcu.23212","volume":"50","author":"B Moradi","year":"2022","unstructured":"Moradi B, Taherian R et al (2022) Fetal corpus callosum abnormalities: ultrasound and magnetic resonance imaging role. J Clin Ultrasound 50:989\u20131003","journal-title":"J Clin Ultrasound"},{"key":"9821_CR5","doi-asserted-by":"publisher","first-page":"958570","DOI":"10.3389\/fgene.2022.958570","volume":"13","author":"MC P\u00e2nzaru","year":"2022","unstructured":"P\u00e2nzaru MC, Popa S et al (2022) Genetic heterogeneity in corpus callosum agenesis. Front Genet 13:958570","journal-title":"Front Genet"},{"key":"9821_CR6","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1038\/s10038-021-00932-y","volume":"66","author":"S Miyamoto","year":"2023","unstructured":"Miyamoto S, Kato M et al (2023) Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies. J Hum Genet 66:1061\u20131068","journal-title":"J Hum Genet"},{"key":"9821_CR7","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/j.cortex.2022.07.009","volume":"155","author":"JM Barnby","year":"2022","unstructured":"Barnby JM, Dean RJ et al (2022) Increased persuadability and credulity in people with corpus callosum dysgenesis. Cortex 155:251\u2013263","journal-title":"Cortex"},{"issue":"9","key":"9821_CR8","doi-asserted-by":"publisher","first-page":"1141","DOI":"10.1111\/dmcn.15532","volume":"65","author":"A Wright","year":"2023","unstructured":"Wright A, Booth R (2023) Neuropsychological profiles of children with agenesis of the corpus callosum: a scoping review. Dev Med Child Neurol 65(9):1141\u20131149","journal-title":"Dev Med Child Neurol"},{"key":"9821_CR9","unstructured":"Riggs ER, Andersen EF et al (2023) Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med 22:245\u201357"},{"key":"9821_CR10","first-page":"513","volume":"40","author":"S Santo","year":"2012","unstructured":"Santo S, D\u2019Antonio F et al (2012) Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound ObstetGynecol 40:513\u2013521","journal-title":"Ultrasound ObstetGynecol"},{"key":"9821_CR11","doi-asserted-by":"publisher","first-page":"2495","DOI":"10.1002\/ajmg.a.32418","volume":"A146A","author":"HC Glass","year":"2008","unstructured":"Glass HC, Shaw GM, Ma C, Sherr EH (2008) Agenesis of the corpus callosum in California 1983\u20132003: a population-based study. Am J Med Genet A146A:2495\u20132500","journal-title":"Am J Med Genet"},{"key":"9821_CR12","doi-asserted-by":"publisher","first-page":"615072","DOI":"10.3389\/fgene.2021.615072","volume":"12","author":"F Xiao","year":"2021","unstructured":"Xiao F, Liu X et al (2021) Overdosage of HNF1B gene associated with annular pancreas detected in neonate patients with 17q12 duplication. Front Genet 12:615072","journal-title":"Front Genet"},{"key":"9821_CR13","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1177\/0883073814533149","volume":"30","author":"B Rai","year":"2015","unstructured":"Rai B, Sharif F (2015) Cervicomedullary spinal stenosis and ventriculomegaly in a child with developmental delay due to chromosome 16p12.1 microdeletion syndrome. J Child Neurol 30:394\u2013396","journal-title":"J Child Neurol"},{"key":"9821_CR14","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1017\/S1047951120004667","volume":"31","author":"N Linnane","year":"2021","unstructured":"Linnane N, Green A, McMahon CJ (2021) An unusual case of tetralogy of Fallot with an absent pulmonary valve associated with a retro-aortic innominate vein in a patient with a 16p12.2 microdeletion. Cardiol Young 31:836\u2013837","journal-title":"Cardiol Young"},{"key":"9821_CR15","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1086\/519999","volume":"81","author":"E Boland","year":"2007","unstructured":"Boland E, Clayton-Smith J et al (2007) Mapping of deletion and translocation breakpoints in 1q44 implicates the serine\/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 81:292\u2013303","journal-title":"Am J Hum Genet"},{"key":"9821_CR16","doi-asserted-by":"publisher","first-page":"1496","DOI":"10.1212\/01.wnl.0000183066.09239.b6","volume":"65","author":"EH Sherr","year":"2005","unstructured":"Sherr EH, Owen R et al (2005) Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology 65:1496\u20131498","journal-title":"Neurology"},{"key":"9821_CR17","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1186\/s13039-022-00620-2","volume":"15","author":"B Khadija","year":"2022","unstructured":"Khadija B, Rjiba K et al (2022) Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review. Mol Cytogenet 15:42","journal-title":"Mol Cytogenet"},{"key":"9821_CR18","doi-asserted-by":"publisher","first-page":"2280","DOI":"10.1002\/acn3.51484","volume":"8","author":"R Romaniello","year":"2021","unstructured":"Romaniello R, Arrigoni F et al (2021) Long-term follow-up in a cohort of children with isolated corpus callosum agenesis at fetal MRI. Ann Clin TranslNeurol 8:2280\u20132288","journal-title":"Ann Clin TranslNeurol"},{"key":"9821_CR19","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1177\/08830738211016253","volume":"36","author":"X Li","year":"2021","unstructured":"Li X, Wang Q (2021) Magnetic Resonance Imaging (MRI) diagnosis of fetal corpus callosum abnormalities and follow-up analysis. J Child Neurol 36:1017\u20131026","journal-title":"J Child Neurol"},{"key":"9821_CR20","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1038\/nrn2107","volume":"8","author":"LK Paul","year":"2007","unstructured":"Paul LK, Brown WS et al (2007) Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci 8:287\u2013299","journal-title":"Nat Rev Neurosci"},{"key":"9821_CR21","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1007\/s10578-007-0065-6","volume":"38","author":"DH Badaruddin","year":"2007","unstructured":"Badaruddin DH, Andrews GL et al (2007) Social and behavioral problems of children with agenesis of the corpus callosum. Child Psychiatry Hum Dev 38:287\u2013302","journal-title":"Child Psychiatry Hum Dev"},{"key":"9821_CR22","first-page":"295","volume":"17","author":"C Vasudevan","year":"2012","unstructured":"Vasudevan C, McKechnie L, Levene M (2012) Long-term outcome of antenatally diagnosed agenesis of corpus callosum and cerebellar malformations. SeminFetal Neonatal Med 17:295\u2013300","journal-title":"SeminFetal Neonatal Med"},{"key":"9821_CR23","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1002\/uog.8882","volume":"37","author":"R Mangione","year":"2011","unstructured":"Mangione R, Fries N et al (2011) Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum. Ultrasound Obstet Gynecol 37:290\u2013295","journal-title":"Ultrasound Obstet Gynecol"},{"key":"9821_CR24","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1016\/j.ejpn.2017.08.003","volume":"22","author":"V des Portes","year":"2018","unstructured":"des Portes V, Rolland A et al (2018) Outcome of isolated agenesis of the corpus callosum: a population-based prospective study. Eur J Paediatr Neuro 22:82\u201392","journal-title":"Eur J Paediatr Neuro"},{"key":"9821_CR25","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1016\/j.ajog.2011.12.024","volume":"206","author":"A Sotiriadis","year":"2012","unstructured":"Sotiriadis A, Makrydimas G (2012) Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. Am J Obstet Gynecol 206:331\u2013335","journal-title":"Am J Obstet Gynecol"},{"key":"9821_CR26","doi-asserted-by":"publisher","first-page":"3269","DOI":"10.1093\/hmg\/ddu038","volume":"23","author":"KJ Carss","year":"2014","unstructured":"Carss KJ, Hillman SC et al (2014) Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. Hum Mol Genet 23:3269\u20133277","journal-title":"Hum Mol Genet"},{"key":"9821_CR27","doi-asserted-by":"publisher","first-page":"1430","DOI":"10.1038\/gim.2018.30","volume":"20","author":"N Chandler","year":"2018","unstructured":"Chandler N, Best S et al (2018) Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. Genet Med 20:1430\u20131437","journal-title":"Genet Med"},{"key":"9821_CR28","first-page":"1073","volume":"35","author":"CL Alamillo","year":"2015","unstructured":"Alamillo CL, Powis Z et al (2015) Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. PrenatDiagn 35:1073\u20131078","journal-title":"PrenatDiagn"},{"key":"9821_CR29","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1111\/cge.14070","volume":"101","author":"MA de Koning","year":"2022","unstructured":"de Koning MA, Hoffer MJV et al (2022) Prenatal exome sequencing: a useful tool for the fetal neurologist. Clin Genet 101:65\u201377","journal-title":"Clin Genet"},{"key":"9821_CR30","doi-asserted-by":"publisher","first-page":"e23971","DOI":"10.1002\/jcla.23971","volume":"Anal35","author":"Q She","year":"2021","unstructured":"She Q, Tang E et al (2021) Prenatal genetic testing in 19 fetuses with corpus callosum abnormality. J Clin Lab Anal 35:e23971","journal-title":"J Clin Lab"},{"key":"9821_CR31","doi-asserted-by":"publisher","first-page":"714","DOI":"10.1186\/s12888-022-04332-0","volume":"22","author":"R Yang","year":"2022","unstructured":"Yang R, Cao Y et al (2022) Social anxiety disorder in an adolescent with agenesis of the corpus callosum: a case report. BMC Psychiatry 22:714","journal-title":"BMC Psychiatry"}],"container-title":["Molecular Biology Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-024-09821-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11033-024-09821-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-024-09821-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,5]],"date-time":"2025-02-05T03:59:08Z","timestamp":1738727948000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11033-024-09821-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,30]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["9821"],"URL":"https:\/\/doi.org\/10.1007\/s11033-024-09821-x","relation":{},"ISSN":["0301-4851","1573-4978"],"issn-type":[{"value":"0301-4851","type":"print"},{"value":"1573-4978","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,30]]},"assertion":[{"value":"16 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Ethics Committee at the Fujian Provincial Maternal and Child Health Hospital (no. 2014042). Informed consent was obtained from all individuals in this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"All subjects provided informed consent to participate in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"872"}}