Ruland, Anna Marlene, Gloning, Karl-Philipp, Albig, Matthias, Kagan, Karl-Oliver, Hammer, Ruediger, Schaelike, Michael, Berg, Christoph, Gembruch, Ulrich ORCID: 0000-0001-8284-4669 and Geipel, Annegret
(2017).
The Incidence of Chromosomal Aberrations in Prenatally Diagnosed Isolated Agenesis of the Corpus Callosum.
Ultraschall Med., 38 (6).
S. 626 - 633.
STUTTGART:
GEORG THIEME VERLAG KG.
ISSN 1438-8782
Abstract
Purpose To establish the prevalence of chromosomal aberrations in fetuses with an apparently isolated agenesis of the corpus callosum (ACC) on prenatal ultrasound. Materials & Methods This 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. Results Complete ACC was diagnosed in 343 cases. Of them, 143 (41.6 %) were isolated, with 16 fetuses showing additional minor findings. In 76.2 % (109/143) karyotyping was performed. Additional array CGH analysis was performed in 7.7 % (11/143). Chromosomal aberrations were found in 4.6 % (5/109) overall, in 3.1 % (3/98) of those without any additional sonographic findings (all represented mosaic trisomy 8) and in 18.2 % (2/11) of those with minor abnormalities. The prevalence of pathogenic submicroscopic copy number variant (CNV) was 9 % (1/11). Conclusion Fetal 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.
Item Type: | Journal Article | ||||||||||||||||||||||||||||||||||||||||
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URN: | urn:nbn:de:hbz:38-209005 | ||||||||||||||||||||||||||||||||||||||||
DOI: | 10.1055/s-0043-113818 | ||||||||||||||||||||||||||||||||||||||||
Journal or Publication Title: | Ultraschall Med. | ||||||||||||||||||||||||||||||||||||||||
Volume: | 38 | ||||||||||||||||||||||||||||||||||||||||
Number: | 6 | ||||||||||||||||||||||||||||||||||||||||
Page Range: | S. 626 - 633 | ||||||||||||||||||||||||||||||||||||||||
Date: | 2017 | ||||||||||||||||||||||||||||||||||||||||
Publisher: | GEORG THIEME VERLAG KG | ||||||||||||||||||||||||||||||||||||||||
Place of Publication: | STUTTGART | ||||||||||||||||||||||||||||||||||||||||
ISSN: | 1438-8782 | ||||||||||||||||||||||||||||||||||||||||
Language: | English | ||||||||||||||||||||||||||||||||||||||||
Faculty: | Unspecified | ||||||||||||||||||||||||||||||||||||||||
Divisions: | Unspecified | ||||||||||||||||||||||||||||||||||||||||
Subjects: | no entry | ||||||||||||||||||||||||||||||||||||||||
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Refereed: | Yes | ||||||||||||||||||||||||||||||||||||||||
URI: | http://kups.ub.uni-koeln.de/id/eprint/20900 |
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