4 years ago

The diagnostic yield of chromosomal microarray analysis in fetuses with increased nuchal translucency: a French multicentre retrospective study

Chantal Missirian, Kevin Uguen, Claudine Le Vaillant, Sylvie Jaillard, Matthieu Egloff, Charles Coutton, Florence Bretelle, Estelle Perdriolle, Claire Beneteau, Anne-Hélène Saliou, Gwenaelle Le Bouar, Fabienne Prieur, Christine Muti, Anne-Laure Coston, Bérénice Hervé, Michel Vekemans, Valerie Malan, François Vialard, Laurant J. Salomon, Olivia Anselem, Mylène Valduga, Thibaud Quibel, Marie-Christine Jacquemot, Cécile Fanget, Aurélie Coussement
Objective The aim of our study was to determine the frequency and nature of Copy Number Variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort of fetuses with a strictly isolated, increased nuchal translucency (NT) above or equal to 3.5 mm. Methods This is a retrospective, multicentre study including eleven French hospitals over a period between April 2012 and December 2015 in which 720 fetuses were analysed by rapid aneuploidy test and CMA. Results In 121 fetuses (16.8%), an aneuploidy involving chromosomes 13, 18 or 21 was detected by a rapid technique. Of the 599 remaining euploid fetuses, 53 CNVs (8.8%) were detected by CMA: 16 (2.7%) were considered pathogenic among which 11 (1.8%) were cryptic (not visible by karyotyping). Further, 7 (1.2%) were CNVs predisposing to neurodevelopmental disorders and 8 (1.3%) CNVs were classified as Variant of Uncertain Significance (VUS). Interestingly, we identified 5 genomic imbalances of the 1q21.1 and 15q11.2 regions known to be associated with congenital heart defects. Conclusion Our study demonstrates the benefit of CMA in the etiological diagnosis of fetuses with a strictly isolated, increased nuchal translucency.

Publisher URL: http://onlinelibrary.wiley.com/resolve/doi

DOI: 10.1002/uog.18928

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