scholarly journals Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency

2018 ◽  
Vol 15 (2) ◽  
pp. 49-54
Author(s):  
So Hyun Shim ◽  
Dong Hyun Cha
Keyword(s):  
Microarray Analysis ◽  
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.

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

scholarly journals Risk of Clinically Significant Chromosomal Microarray Analysis Findings in Fetuses With Nuchal Translucency From 3.0 mm Through 3.4 mm

2020 ◽  
Vol 137 (1) ◽  
pp. 126-131
Author(s):  
Lena Sagi-Dain ◽  
Amihood Singer ◽  
Shay Ben Shachar ◽  
Sagi Josefsberg Ben Yehoshua ◽  
Michal Feingold-Zadok ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Nuchal Translucency ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinically Significant

scholarly journals Contribution of Pathogenic CNVs and Noonan Syndrome in Fetuses with Increased Nuchal Translucency and Persistently Increased Nuchal Fold

2021 ◽  
Vol 8 (3) ◽  
Author(s):  
Lin Y ◽  
◽  
Wang H ◽  
Chau MHK ◽  
Lou J ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Genetic Diagnosis ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Second Trimester ◽  
Diagnostic Strategies ◽  
Pathogenic Cnvs ◽  
Increased Nuchal Translucency

Prenatal genetic diagnosis in euploid fetuses with increased Nuchal Translucency (NT) and persistently increased Nuchal Fold (NF) is challenging. The aims of this study is to evaluate the prevalence of pathogenic copy number variants and Noonan Syndrome (NS) in fetuses with increased NT and persistently increased Nuchal Fold (NF) to provide recommendations for pre-natal diagnostic strategies. This is a prospective study from 118 prenatal samples from fetuses with increased NT (≥3.5mm) in first trimester. Multiplex Ligation Dependent Probe Amplification (MLPA), Chromosomal Microarray Analysis (CMA) and karyotyping were conducted. For fetuses with increased NF (≥6mm) in the second trimester with normal karyotype and CMA, targeted Next-Generation Sequencing (NGS) tests for NS were carried out. A total of 118 fetuses had an NT measurement of ≥3.5mm performed MLPA and karyotyping, 89 euploid fetuses were further investigated with CMA, which yielded eight pathogenic CNVs (size ranged from 0.85Mb to 14.5Mb). Twenty fetuses had persistently increased NF at the second trimester. NS testing revealed 3/20 (15%) fetuses had pathogenic variants, and one (5%) with a novel variant of uncertain clinical significance inherited from the father. Our study suggested that NS targeted sequencing facilitates additional genetic diagnosis in fetuses with high NT and persistently increased NF.

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