Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester

2008 ◽  
Vol 36 (2) ◽  
pp. 119-122 ◽  
Author(s):  
Charles Tsung-Che Hsieh ◽  
Guang-Perng Yeh ◽  
Hsin-Hung Wu ◽  
Joung-Liang Wu ◽  
Pan-Hsin Chou ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta

2002 ◽  
Vol 109 (4) ◽  
pp. 336-337 ◽  
Author(s):  
Elsa Viora ◽  
Andrea Sciarrone ◽  
Simona Bastonero ◽  
Giuseppe Errante ◽  
Mario Campogrande ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
First Trimester ◽  
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

scholarly journals INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

2019 ◽  
Vol 2 (1) ◽  
pp. 59-61
Author(s):  
Cristina Moisei ◽  
Anca Lesnica ◽  
Romina Marina Sima ◽  
Liana Pleș
Keyword(s):  
Chorionic Villus ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Chorionic Villus Sampling ◽  
Increased Risk ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

OC127: Increased nuchal translucency and distended jugular lymphatic sacs by first-trimester ultrasound

2004 ◽  
Vol 24 (3) ◽  
pp. 250-251
Author(s):  
M. Bekker ◽  
M. C. Haak ◽  
M. Rekoert-Hollander ◽  
J. Twisk ◽  
J. M. G. van Vugt
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome

2004 ◽  
Vol 24 (2) ◽  
pp. 151-153 ◽  
Author(s):  
S. Strenge ◽  
U. G. Froster ◽  
R. J. A. Wanders ◽  
J. Gartner ◽  
E. M. Maier ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency
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