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Genomics Precision Diagnostic > Prenatal > Increased Nuchal Translucency Precision Panel

Increased Nuchal Translucency Precision Panel

Increased Nuchal Translucency (NT) is defined as an abnormal accumulation of fluid in the nuchal area, which is visualized as a thickened sonolucent area. It is a standardized measure obtained between 11 and 14 weeks of gestation to calculate the risk of a fetus being affected by a chromosomal aneuploidy. 
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Increased Nuchal Translucency (NT) is defined as an abnormal accumulation of fluid in the nuchal area, which is visualized as a thickened sonolucent area. It is a standardized measure obtained between 11 and 14 weeks of gestation to calculate the risk of a fetus being affected by a chromosomal aneuploidy. NT>3.5mm has been found to be associated with fetal chromosomal abnormalities and single-gene disorders as well as cardiac defects and other structural abnormalities in euploid and aneuploid fetuses. Proportionally as NT increases, even with a normal karyotype, there is a higher risk of adverse pregnancy outcomes such as miscarriage, intrauterine death, congenital heart defects and numerous other structural and genetic syndromes. There is not one single cause of increased NT, it is based on a complex and multifactorial process, linked to one or more embryonic processes. It has been shown that a persistently increased NT with a normal karyotype and aCGH has a 4-10% probability of being associated to Noonan Syndrome and/or other RASopathies using Whole Exome Sequencing (WES). However, the general tendency following detection of isolated enlarged NT in an euploid fetus is that most babies with normal detailed ultrasound examination and echocardiography will have uneventful outcomes. 
  • The Igenomix Increased Nuchal Translucency Precision Panel can be used to make a directed and accurate prenatal differential diagnosis of increased nuchal translucency in patients with or without a normal karyotype ultimately leading to a better management and prognosis of the associated comorbidities. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

  • The Igenomix Infertility Precision Panel is indicated for those patients with ultrasound measured increased nuchal translucency (TN>3.5mm) with normal or abnormal karyotype and/or aCGH. 

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular confirmation for an accurate clinical diagnosis of associated syndromes of a fetus presenting with increased nuchal translucency.  
  • Reduce burden of parents over prenatally undetectable conditions. 
  • Genetic counselling emphasizing the fact that following detection of isolated enlarged NT, most babies with normal detailed ultrasound examination and echocardiography will have uneventful outcome. 
  • To provide valuable information based on genetic testing combined with fetal ultrasound examination that can influence pregnancy outcome, and provide recurrence risks.  

Genes & Diseases

Methodology

References

See scientific referrals

Burger, N. B., Bekker, M. N., de Groot, C. J., Christoffels, V. M., & Haak, M. C. (2015). Why increased nuchal translucency is associated with congenital heart disease: a systematic review on genetic mechanisms. Prenatal diagnosis, 35(6), 517–528. https://doi.org/10.1002/pd.4586 

Matyášová, M., Dobšáková, Z., Hiemerová, M., Kadlecová, J., Nikulenkov Grochová, D., Popelínská, E., Svobodová, E., & Vlašín, P. (2019). Prenatal diagnosis of Noonan syndrome in fetuses with increased nuchal translucency and a normal karyotype. Prenatální diagnostika syndromu Noonanové u plodů se zvýšeným šíjovým projasněním a normálním karyotypem. Ceska gynekologie, 84(3), 195–200. 

Sinajon, P., Chitayat, D., Roifman, M., Wasim, S., Carmona, S., Ryan, G., Noor, A., Kolomietz, E., & Chong, K. (2020). Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 55(3), 383–390. https://doi.org/10.1002/uog.20352 

Alamillo, C. M., Fiddler, M., & Pergament, E. (2012). Increased nuchal translucency in the presence of normal chromosomes. Current Opinion in Obstetrics & Gynecology, 24(2), 102-108. doi:10.1097/gco.0b013e3283505b25 

Bilardo, C., Timmerman, E., Pajkrt, E., & Van Maarle, M. (2010). Increased nuchal translucency in euploid fetuses-what should we be telling the parents? Prenatal Diagnosis, 30(2), 93-102. doi:10.1002/pd.2396 

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