Universität zu Köln

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

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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
Creators:	Creators Email ORCID ORCID Put Code Ruland, Anna Marlene UNSPECIFIED UNSPECIFIED UNSPECIFIED Gloning, Karl-Philipp UNSPECIFIED UNSPECIFIED UNSPECIFIED Albig, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Kagan, Karl-Oliver UNSPECIFIED UNSPECIFIED UNSPECIFIED Hammer, Ruediger UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaelike, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Berg, Christoph UNSPECIFIED UNSPECIFIED UNSPECIFIED Gembruch, Ulrich UNSPECIFIED orcid.org/0000-0001-8284-4669 UNSPECIFIED Geipel, Annegret UNSPECIFIED UNSPECIFIED UNSPECIFIED
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
Uncontrolled Keywords:	Keywords Language MICROARRAY ANALYSIS; FETUSES; ABNORMALITIES; ULTRASOUND; ANOMALIES Multiple languages Acoustics; Radiology, Nuclear Medicine & Medical Imaging Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/20900