Skip to Main content Skip to Navigation
Journal articles

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

M. Egloff 1, 2, 3 B. Hervé 4 T. Quibel 5 S. Jaillard 6, 7 G. Le Bouar 6 K. Uguen 8 A.‐h. Saliou 9 M. Valduga 10 E. Perdriolle 10 C. Coutton 11 A.‐l. Coston 12 A. Coussement 13 O. Anselem 14 C. Missirian 15 F. Bretelle 16, 17 F. Prieur 18 C. Fanget 18 C. Muti 19 M. Jacquemot 19 C. Beneteau 20 C. Le Vaillant 20 M. Vekemans 1 L. Salomon 3 F. Vialard 4 V. Malan 1, 3
Abstract : Objective - To determine the frequency and nature of copy number variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort of fetuses with isolated increased nuchal translucency thickness (NT) ≥ 3.5 mm. Methods - This was a retrospective, multicenter study, including 11 French hospitals, of data from the period between April 2012 and December 2015. In total, 720 fetuses were analyzed by rapid aneuploidy test and the fetuses identified as euploid underwent CMA. CNVs detected were evaluated for clinical significance and classified into five groups: pathogenic CNVs; benign CNVs; CNVs predisposing to neurodevelopmental disorders; variants of uncertain significance (VOUS); and CNVs not related to the phenotype (i.e. incidental findings). Results - In 121 (16.8%) fetuses, an aneuploidy involving chromosome 13, 18 or 21 was detected by rapid aneuploidy test and the remaining 599 fetuses were euploid. Among these, 53 (8.8%) had a CNV detected by CMA: 16/599 (2.7%) were considered to be pathogenic, including 11/599 (1.8%) that were cryptic (not visible by karyotyping); 7/599 (1.2%) were CNVs predisposing to neurodevelopmental disorders; and 8/599 (1.3%) were VOUS. Additionally, there was one (0.2%) CNV that was unrelated to the reason for referral diagnosis (i.e. an incidental finding) and the remaining 21 were benign CNVs, without clinical consequence. Interestingly, we identified five genomic imbalances of the 1q21.1 or 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 isolated increased NT. It is worth noting that most (69%) of the detected pathogenic CNVs were cryptic. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.
Complete list of metadatas

https://hal-amu.archives-ouvertes.fr/hal-02006559
Contributor : Isabelle Combe <>
Submitted on : Monday, February 4, 2019 - 4:33:26 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:17 PM

Links full text

Identifiers

Citation

M. Egloff, B. Hervé, T. Quibel, S. Jaillard, G. Le Bouar, et al.. Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study. Ultrasound in Obstetrics and Gynecology = Ultrasound in Obstetrics & Gynecology, Wiley-Blackwell, 2018, 52 (6), pp.715-721. ⟨10.1002/uog.18928⟩. ⟨hal-02006559⟩

Share

Metrics

Record views

293