scholarly journals Cat-eye syndrome in a fetus with increased nuchal translucency: three-dimensional ultrasound and echocardiographic evaluation of the fetal phenotype

2004 ◽  
Vol 24 (4) ◽  
pp. 485-487 ◽  
Author(s):  
P. Volpe ◽  
A. L. Buonadonna ◽  
G. Campobasso ◽  
A. Di Carlo ◽  
A. Stanziano ◽  
...  
Keyword(s):  
Three Dimensional ◽  
Nuchal Translucency ◽  
Cat Eye Syndrome ◽  
Echocardiographic Evaluation ◽  
Increased Nuchal Translucency

First trimester three-dimensional ultrasonographic diagnosis of diastrophic dysplasia: a case report and review of the literature

2014 ◽  
Vol 3 (2) ◽  
Author(s):  
Ozgur Ozyuncu ◽  
Mert Turgal ◽  
Aslihan Yazicioglu
Keyword(s):  
Genetic Disorder ◽  
Three Dimensional ◽  
Pregnant Patient ◽  
First Trimester ◽  
Nuchal Translucency ◽  
3D Ultrasound ◽  
Review Of The Literature ◽  
Diastrophic Dysplasia ◽  
First Trimester Scan ◽  
Increased Nuchal Translucency

AbstractDiastrophic dysplasia is a rare genetic disorder characterized by short limbs and deformities of several joints occurring in conjunction with xyphoscoliosis, distinctive abduction of the first metacarpals (hitchhiker thumbs). A 28-year-old pregnant patient was referred due to detection of increased nuchal translucency at the first-trimester scan. We describe a case of diastrophic dysplasia diagnosed by two- and three-dimensional ultrasound and termination of pregnancy at 13 weeks of gestation. This case is the first report in the literature in which 3D ultrasound was used in diagnosis of diastrophic dysplasia as early as the 13th week of pregnancy. We think that prenatal diagnosis of diastrophic dysplasia can be possible even at first trimester.

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

De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency

2006 ◽  
Vol 26 (3) ◽  
pp. 206-213 ◽  
Author(s):  
Sophie Brisset ◽  
Serdar Kasakyan ◽  
Aurore Coulomb L'Herminé ◽  
Valérie Mairovitz ◽  
Evelyne Gautier ◽  
...  
Keyword(s):  
De Novo ◽  
Nuchal Translucency ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Increased Nuchal Translucency

scholarly journals Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect

2015 ◽  
Vol 35 (13) ◽  
pp. 1278-1286 ◽  
Author(s):  
Nicole B. Burger ◽  
Mireille N. Bekker ◽  
Evelien Kok ◽  
Christianne J. M. De Groot ◽  
James F. Martin ◽  
...  
Keyword(s):  
Nuchal Translucency ◽  
Cardiac Defect ◽  
Lymphatic Development ◽  
Increased Nuchal Translucency
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