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Keywords: Prenatal diagnosis
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Journal Articles
Journal Articles
Journal Articles
Subject Area:
Genetics
Cytogenet Genome Res (2020) 160 (11-12): 643–649.
Published Online: 01 March 2021
... on actual clinical data are still limited. In this study, 181 fetuses were screened by fetal echocardiography for prenatal diagnosis of congenital heart disease, including 146 cases without ultrasound extracardiac findings (Group A) and 35 cases with ultrasound extracardiac findings (Group B). All cases...
Journal Articles
Subject Area:
Genetics
Cytogenet Genome Res (2020) 160 (2): 57–62.
Published Online: 28 April 2020
... to be considered in cases with negative CMA findings. However, appropriate genetic counseling should be given to optimizing its utilization in prenatal diagnosis. 15 01 2020 8 02 2020 © 2020 S. Karger AG, Basel Copyright / Drug Dosage / Disclaimer Copyright: All rights reserved. No part...
Journal Articles
Subject Area:
Genetics
Cytogenet Genome Res (2019) 158 (4): 199–204.
Published Online: 16 July 2019
... or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Inverted duplication Prenatal diagnosis Ring chromosome Supernumerary marker chromosomes Tetrasomy13q11.2q14 • Ring-shaped small supernumerary marker chromosomes derived from...
Journal Articles
Journal Articles
Journal Articles
Journal Articles
Journal Articles
Subject Area:
Genetics
Cytogenet Genome Res (2017) 151 (3): 115–118.
Published Online: 09 March 2017
...) and 2 signals in the cultured lymphocytes from the maternal grandfather (d). The Xp/Yp subtelomeric probe (red signal) was used as a control. Prenatal diagnosis Benign CNV Duplication Xq21.33 Normal phenotype Duplications of the long arm of the X chromosome (Xq) result from...
Journal Articles
Journal Articles
Subject Area:
Genetics
Cytogenet Genome Res (2015) 146 (1): 44–50.
Published Online: 22 July 2015
...Federica Natacci; Giulia Melloni; Francesca Motta; Rosamaria Silipigni; Fabio Doniselli; Tommaso Rizzuti; Marcello Frigerio; Silvana Guerneri Parental balanced translocation is one of the traditional indications for invasive prenatal diagnosis. Usually, the diagnostic process is straightforward...
Journal Articles
Journal Articles
Journal Articles
Subject Area:
Genetics
Cytogenet Genome Res (2014) 142 (4): 239–244.
Published Online: 16 May 2014
.... The selected indications for prenatal diagnosis are shown in table 1 . At least 3-6 ml of amniotic fluid was used for cultivation according to a standard procedure. In our laboratory, all primary cell clones (in situ cultures) and all subcultures were grown on slide cover glasses. Whenever possible, 2-4...
Journal Articles
Subject Area:
Genetics
Cytogenet Genome Res (2012) 136 (3): 171–174.
Published Online: 11 February 2012
... in Ethiopian Beta Israel occurring at an estimated frequency of 4/74 (5.4%). The prenatal diagnosis of this translocation in this population probably does not require further parental testing. © 2012 S. Karger AG, Basel 2012 Copyright / Drug Dosage / Disclaimer Copyright: All rights reserved. No part...
Journal Articles
Subject Area:
Genetics
Cytogenet Genome Res (2011) 135 (3-4): 241–250.
Published Online: 12 November 2011
.... The higher abnormality detection yield and its amenability to automation renders array-CGH also suitable for prenatal diagnosis. As both findings of unclear significance and unexpected findings may be detected, studies on the outcome of array-CGH in prenatal diagnosis were initially performed retrospectively...