Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis

2015 ◽  
Vol 46 (6) ◽  
pp. 650-658 ◽  
Author(s):  
M. Grande ◽  
F. A. R. Jansen ◽  
Y. J. Blumenfeld ◽  
A. Fisher ◽  
A. O. Odibo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Genomic Microarray ◽  
Increased Nuchal Translucency

Genomic Microarray in Fetuses With Increased Nuchal Translucency and Normal Karyotype

2016 ◽  
Vol 71 (4) ◽  
pp. 209-210
Author(s):  
M. Grande ◽  
F. A. R. Jansen ◽  
Y. J. Blumenfeld ◽  
A. Fisher ◽  
A. O. Odibo ◽  
...  
Keyword(s):  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Genomic Microarray ◽  
Increased Nuchal Translucency

Nuchal translucency measurement, freeβ-hCG and PAPP-A concentrations in IVF/ICSI pregnancies: systematic review and meta-analysis

2017 ◽  
Vol 37 (6) ◽  
pp. 540-555 ◽  
Author(s):  
Paolo Cavoretto ◽  
Veronica Giorgione ◽  
Sonia Cipriani ◽  
Paola Viganò ◽  
Massimo Candiani ◽  
...  
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
Nuchal Translucency ◽  
Nuchal Translucency Measurement

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.

scholarly journals Increased nuchal translucency thickness and normal karyotype: time for parental reassurance

2007 ◽  
Vol 30 (1) ◽  
pp. 11-18 ◽  
Author(s):  
C. M. Bilardo ◽  
M. A. Müller ◽  
E. Pajkrt ◽  
S. A. Clur ◽  
M. M. van Zalen ◽  
...  
Keyword(s):  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

scholarly journals Congenital extracardiac venous system anomaly in two siblings with normal karyotype and increased nuchal translucency thickness: a case report

2020 ◽  
Vol 2020 (6) ◽  
Author(s):  
Yuko Takahashi ◽  
Takeshi Nagamatsu ◽  
Tatsuya Fujii ◽  
Ayako Hashimoto ◽  
Seisuke Sayama ◽  
...  
Keyword(s):  
Heart Diseases ◽  
Umbilical Vein ◽  
Normal Karyotype ◽  
Final Diagnosis ◽  
Nuchal Translucency ◽  
Venous System ◽  
Ductus Venosus ◽  
Hereditary Factors ◽  
Anomalous Pulmonary Venous Return ◽  
Increased Nuchal Translucency

Abstract Previous studies have reported that congenital heart diseases (CHDs) develop in patients with genetic and environmental predisposition. Compared to CHDs, the significance of hereditary factors in the pathogenesis of congenital venous system anomalies remains unclear. Additionally, reports describing the pathogenic relationship between venous system anomalies and increased nuchal translucency (NT) are few. We report sibling recurrence of congenital venous system anomalies. In the prenatal periods of both siblings, increased NT without aneuploidy was confirmed. In the first sibling, the absence of ductus venosus (ADV) and umbilical vein-coronary sinus anastomosis was detected using prenatal ultrasonography. In the second sibling, abnormality of the pulmonary vein was suspected prenatally, leading to a final diagnosis of infracardiac total anomalous pulmonary venous return (TAPVR). This is the first report of extracardiac venous anomaly-associated recurrence of increased NT among siblings. We conclude that a hereditary factor may be responsible for the development of ADV and TAPVR.

Sign in / Sign up

Export Citation Format

Share Document