Fetal Akinesia Deformation SequenceP resenting with Increased Nuchal Translucency in the First Trimester of Pregnancy

2004 ◽  
Vol 19 (4) ◽  
pp. 332-335 ◽  
Author(s):  
George Makrydimas ◽  
Alexandros Sotiriadis ◽  
George Papapanagiotou ◽  
Antonios Tsopelas ◽  
Dimitrios Lolis
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
First Trimester Of Pregnancy ◽  
Increased Nuchal Translucency

scholarly journals Cantrell syndrome in the first trimester of pregnancy: imagistic findings and literature review

2020 ◽  
Vol 22 (2) ◽  
pp. 189 ◽  
Author(s):  
Mihaela Grigore ◽  
Romeo Micu ◽  
Roxana Matasariu ◽  
Odetta Duma ◽  
Anca Lucia Chicea ◽  
...  
Keyword(s):  
Systematic Review ◽  
Rare Condition ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Wall Region ◽  
Pentalogy Of Cantrell ◽  
Congenital Birth Defects ◽  
First Trimester Of Pregnancy ◽  
Us Findings ◽  
Increased Nuchal Translucency

Pentalogy of Cantrell (POC) is a rare condition characterized by complete or partial expression of 5 types of congenital birth defects originating in (1) the lower sternum, (2) the anterior diaphragm, (3) the diaphragmatic pericardium, (4) the midline/ventral supraumbilical abdominal wall region, and (5) the heart. POC can be diagnosed antenatally by means of ultrasonography (US), the task being difficult if defects are minor. Advances in the field of US and the introduction of the first morphology trimester as state-of-the-art pregnancy monitoring, facilitate the early diagnosis of this condition. We performed a systematic review on 67 reported cases of POC diagnosed in the first trimester of pregnancy (published from January 1980 to July 2019). The aim of our systematic review was twofold: to assess the main US findings in the first trimester of pregnancy and to increase awareness of early diagnostic possibilities. Our study showed that POC can be diagnosed in the first trimesterof pregnancy based on key US findings such as the association between omphalocele and ectopia cordis. When these two anomalies are present, increased nuchal translucency can also be considered a marker of POC in the first trimester.

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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