Literature DB >> 23454632

Prenatal diagnosis using array-CGH: a French experience.

Caroline Rooryck1, Jérôme Toutain, Dorothée Cailley, Julie Bouron, Jacques Horovitz, Didier Lacombe, Benoit Arveiler, Robert Saura.   

Abstract

Array-CGH or Chromosomal Microarray Analysis (CMA) is increasingly used in prenatal diagnosis throughout the world. However, routine practices are very different among centers and countries, regarding CMA indications, design and resolution of microarrays, notification and interpretation of Copy Number Alterations (CNA). We present our data and experience from our Fetal Medicine Center on 224 prospective prenatal diagnoses. Our approach is practical, and aims to propose a strategy to offer Chromosomal Microarray Analysis (CMA) to selected fetuses and to help to interpret CNA. We hope that this publication could encourage development of CMA in centers that have not started yet this activity in prenatal routine, and could contribute to edict guidelines in this field.
Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Keywords:  Array-comparative genomic hybridization; Chorionic villus sampling; Chromosomal Microarray Analysis; Copy number alterations; Copy number variant; Fetal ultrasound anomalies; Fluorescence in situ hybridization; Prenatal diagnosis; VOUS; Variant of unknown significance

Mesh:

Year:  2013        PMID: 23454632     DOI: 10.1016/j.ejmg.2013.02.003

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  11 in total

Review 1.  Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.

Authors:  Malgorzata I Srebniak; Karin E M Diderich; Lutgarde C P Govaerts; Marieke Joosten; Sam Riedijk; Robert Jan H Galjaard; Diane Van Opstal
Journal:  Eur J Hum Genet       Date:  2013-11-06       Impact factor: 4.246

2.  Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT).

Authors:  Yifang Jia; Heyong Zhao; Donghong Shi; Wen Peng; Luwen Xie; Wei Wang; Fuman Jiang; Hongyun Zhang; Xietong Wang
Journal:  Int J Clin Exp Pathol       Date:  2014-09-15

3.  Duchenne muscular dystrophy: Advances in molecular appraoch.

Authors:  Afaf Benitto; Khalil Hamzi; Mohammed Itri; Ilham Slassi; Sellama Nadifi
Journal:  Indian J Hum Genet       Date:  2013-01

4.  Clinical utility of array comparative genomic hybridisation in prenatal setting.

Authors:  Luca Lovrecic; Ziga Iztok Remec; Marija Volk; Gorazd Rudolf; Karin Writzl; Borut Peterlin
Journal:  BMC Med Genet       Date:  2016-11-15       Impact factor: 2.103

5.  Developing a perinatal palliative care service package for women with fetal anomaly diagnosis: protocol for mixed methods study.

Authors:  Ziba Raisi Dehkordi; Shahnaz Kohan; Maryam Rassouli; Elahe Zarean; Azadeh Malekian
Journal:  Reprod Health       Date:  2020-03-04       Impact factor: 3.223

6.  Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.

Authors:  Malgorzata I Srebniak; Merel C de Wit; Karin E M Diderich; Lutgarde C P Govaerts; Marieke Joosten; Maarten F C M Knapen; Marnix J Bos; Gerda A G Looye-Bruinsma; Mieke Koningen; Attie T J I Go; Robert Jan H Galjaard; Diane Van Opstal
Journal:  Mol Cytogenet       Date:  2016-09-07       Impact factor: 2.009

Review 7.  Clinical interpretation of copy number variants in the human genome.

Authors:  Beata Nowakowska
Journal:  J Appl Genet       Date:  2017-09-30       Impact factor: 3.240

8.  A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions.

Authors:  Hua Jin; Juan Wang; Guoying Zhang; Hongyan Jiao; Jiansheng Zhu; Zhimin Li; Chen Chen; XuanPing Zhang; Huan Huang; JiaYin Wang
Journal:  Sci Rep       Date:  2021-03-10       Impact factor: 4.379

9.  Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.

Authors:  Katarzyna Kowalczyk; Magdalena Bartnik-Głaska; Marta Smyk; Izabela Plaskota; Joanna Bernaciak; Marta Kędzior; Barbara Wiśniowiecka-Kowalnik; Krystyna Jakubów-Durska; Natalia Braun-Walicka; Artur Barczyk; Maciej Geremek; Jennifer Castañeda; Anna Kutkowska-Kaźmierczak; Paweł Własienko; Marzena Dębska; Anna Kucińska-Chahwan; Tomasz Roszkowski; Szymon Kozłowski; Boyana Mikulska; Tadeusz Issat; Ewa Obersztyn; Beata Anna Nowakowska
Journal:  Genes (Basel)       Date:  2021-12-19       Impact factor: 4.096

Review 10.  The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.

Authors:  Jonathan L A Callaway; Lisa G Shaffer; Lyn S Chitty; Jill A Rosenfeld; John A Crolla
Journal:  Prenat Diagn       Date:  2013-09-08       Impact factor: 3.050

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