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

2018 ◽  
Vol 52 (6) ◽  
pp. 715-721 ◽  
Author(s):  
M. Egloff ◽  
B. Hervé ◽  
T. Quibel ◽  
S. Jaillard ◽  
G. Le Bouar ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Multicenter Study ◽  
Diagnostic Yield ◽  
Nuchal Translucency ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Increased Nuchal Translucency

scholarly journals Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

2019 ◽  
Vol 7 (3) ◽  
pp. 40 ◽  
Author(s):  
Rita Cicatiello ◽  
Piero Pignataro ◽  
Antonella Izzo ◽  
Nunzia Mollo ◽  
Lucia Pezone ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Chromosomal Rearrangements ◽  
Prenatal Testing ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Cystic Hygroma ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosomal Anomalies ◽  
Increased Nuchal Translucency

We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of karyotype, chromosome microarray analysis (CMA), and non-invasive prenatal testing (NIPT) in this condition. Presenting with increased NT or cystic hygroma ≥3.5 mm as an isolated sign, 249 fetuses underwent karyotype and/or CMA from 11 to 18 gestational weeks. Karyotype and fluorescence in situ hybridization (FISH) analyses detected 103 chromosomal anomalies including 95 aneuploidies and eight chromosomal rearrangements or derivatives. Further, seven pathogenic copy number variants (CNV), five likely pathogenic CNVs, and 15 variants of unknown significance (VOUS) were detected by CMA in fetuses with normal karyotype. Genetic testing is now facing new challenges due to results with uncertain clinical impacts. Additional investigations will be necessary to interpret these findings. More than 15% of the anomalies that we have diagnosed with invasive techniques could not be detected by NIPT. It is therefore definitely not recommended in the case of ultrasound anomalies. These results, while corroborating the use of CMA in fetuses with increased NT as a second tier after rapid aneuploidy testing, do not suggest a dismissal of karyotype analysis.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

2019 ◽  
Vol 39 (6) ◽  
pp. 464-470 ◽  
Author(s):  
Marguerite Hureaux ◽  
Sarah Guterman ◽  
Bérénice Hervé ◽  
Marianne Till ◽  
Sylvie Jaillard ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Congenital Heart Defect ◽  
Multicenter Study ◽  
Congenital Heart ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Heart Defect

scholarly journals Cut-off value of nuchal translucency as indication for chromosomal microarray analysis

2017 ◽  
Vol 50 (3) ◽  
pp. 332-335 ◽  
Author(s):  
I. Maya ◽  
S. Yacobson ◽  
S. Kahana ◽  
J. Yeshaya ◽  
T. Tenne ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Nuchal Translucency ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis
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