Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester

2005 ◽  
Vol 25 (5) ◽  
pp. 426-428 ◽  
Author(s):  
Pierangela De Biasio ◽  
Irina Bruzzone Ichim ◽  
Eloisa Scarso ◽  
Maurizia Baldi ◽  
Anwar Barban ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Type I ◽  
Thanatophoric Dysplasia ◽  
Increased Nuchal Translucency

Thanatophoric dysplasia: possibilities of early prenatal ultrasound diagnosis

2016 ◽  
Author(s):  
M.A. Esetov, A.M. Esetov
Keyword(s):  
Molecular Genetic ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Molecular Genetic Analysis ◽  
Second Trimester ◽  
Definite Diagnosis ◽  
Thanatophoric Dysplasia ◽  
Skeletal Dysplasias ◽  
Trimester Screening ◽  
Increased Nuchal Translucency

We reviewed cases of early prenatal diagnosis of thanatophoric dysplasia (TD). Usually ТD is diagnosed at ultrasonic in the second-trimester scan. At first trimester the sonographic traditional signs of TD meet rarely. Often TD to be associated with increased nuchal translucency at first-trimester screening. TD may not be clearly distinguished from the other skeletal dysplasias in a first trimester. A definite diagnosis can be established by molecular genetic analysis.

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
Sign in / Sign up

Export Citation Format

Share Document