{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,22]],"date-time":"2025-05-22T04:25:09Z","timestamp":1747887909587},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ultraschall in Med"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Purpose\u2002To establish the prevalence of chromosomal aberrations in fetuses with an apparently isolated agenesis of the corpus callosum (ACC) on prenatal ultrasound.<\/jats:p><jats:p>\n          Materials &amp; Methods\u2002This was a retrospective study of complete isolated ACC at the time of ultrasound evaluation with respect to karyotype information. Within this group, a subgroup with non-malformation minor abnormalities, such as a single umbilical artery (SUA), polyhydramnios or fetal growth restriction (FGR), was investigated.<\/jats:p><jats:p>\n          Results\u2002Complete ACC was diagnosed in 343 cases. Of them, 143 (41.6\u200a%) were isolated, with 16 fetuses showing additional minor findings. In 76.2\u200a% (109\/143) karyotyping was performed. Additional array CGH analysis was performed in 7.7\u200a% (11\/143). Chromosomal aberrations were found in 4.6\u200a% (5\/109) overall, in 3.1\u200a% (3\/98) of those without any additional sonographic findings (all represented mosaic trisomy 8) and in 18.2\u200a% (2\/11) of those with minor abnormalities. The prevalence of pathogenic submicroscopic copy number variant (CNV) was 9\u200a% (1\/11).<\/jats:p><jats:p>\n          Conclusion\u2002Fetal karyotyping is recommended in ACC, as trisomy 8 mosaicism should be considered despite otherwise unremarkable ultrasound. The role of novel techniques such as array CGH and its implication has to be explored in prospective studies.<\/jats:p>","DOI":"10.1055\/s-0043-113818","type":"journal-article","created":{"date-parts":[[2017,9,25]],"date-time":"2017-09-25T22:39:08Z","timestamp":1506379148000},"page":"626-632","source":"Crossref","is-referenced-by-count":5,"title":["The Incidence of Chromosomal Aberrations in Prenatally Diagnosed Isolated Agenesis of the Corpus Callosum"],"prefix":"10.1055","volume":"38","author":[{"given":"Anna","family":"R\u00fcland","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Prenatal Medicine, University of Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl-Philipp","family":"Gloning","sequence":"additional","affiliation":[{"name":"Prenatal Medicine Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Albig","sequence":"additional","affiliation":[{"name":"Center for Prenatal Medicine and Human Genetics, Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl-Oliver","family":"Kagan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynecology, University of T\u00fcbingen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00fcdiger","family":"Hammer","sequence":"additional","affiliation":[{"name":"Prenatal Medicine and Human Genetics, praenatal.de, D\u00fcsseldorf, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Sch\u00e4like","sequence":"additional","affiliation":[{"name":"Center for Prenatal Medicine and Human Genetics, Nuremberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph","family":"Berg","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Prenatal Medicine, University of Bonn, Germany"},{"name":"Department of Prenatal Medicine of Gynecologic Sonography, University of Cologne, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich","family":"Gembruch","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Prenatal Medicine, University of Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annegret","family":"Geipel","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Prenatal Medicine, University of Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2017,9,25]]},"container-title":["Ultraschall in der Medizin - European Journal of Ultrasound"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0043-113818.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T23:31:06Z","timestamp":1513726266000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0043-113818"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,25]]},"references-count":0,"journal-issue":{"issue":"06","published-online":{"date-parts":[[2017,12,19]]},"published-print":{"date-parts":[[2017,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0043-113818","relation":{},"ISSN":["0172-4614","1438-8782"],"issn-type":[{"value":"0172-4614","type":"print"},{"value":"1438-8782","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,25]]}}}