Testing for Noonan syndrome after increased nuchal translucency

2017 ◽  
Vol 37 (8) ◽  
pp. 750-753 ◽  
Author(s):  
Marwan M. Ali ◽  
Stephen T. Chasen ◽  
Mary E. Norton
Keyword(s):  
Noonan Syndrome ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome

2011 ◽  
Vol 31 (2) ◽  
pp. 159-166 ◽  
Author(s):  
Yolanda M. de Mooij ◽  
Nynke M. S. van den Akker ◽  
Mireille N. Bekker ◽  
Margot M. Bartelings ◽  
John M. G. van Vugt ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Nuchal Translucency ◽  
Lymphatic Development ◽  
Increased Nuchal Translucency

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.

324: Testing for Noonan syndrome after increased nuchal translucency

2016 ◽  
Vol 214 (1) ◽  
pp. S183-S184
Author(s):  
Marwan M. Ali ◽  
Stephen T. Chasen ◽  
Vanessa Gardner ◽  
Sherri Pena ◽  
Mary E. Norton
Keyword(s):  
Noonan Syndrome ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

scholarly journals Fetal exome sequencing for isolated increased nuchal translucency: Should we be doing it?

2021 ◽  
Author(s):  
Rhiannon Mellis ◽  
Ruth Y Eberhardt ◽  
Susan J Hamilton ◽  
Dominic J McMullan ◽  
Mark D Kilby ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

scholarly journals Osteogenesis imperfecta associated with increased nuchal translucency as a first ultrasound sign: report of another case

2003 ◽  
Vol 21 (2) ◽  
pp. 200-202 ◽  
Author(s):  
E. Viora ◽  
A. Sciarrone ◽  
S. Bastonero ◽  
G. Errante ◽  
G. Botta ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Nuchal Translucency ◽  
Ultrasound Sign ◽  
Increased Nuchal Translucency
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