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Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing

Prenatal diagnosis of euploid increased nuchal translucency (NT) remains a challenge to obstetricians and genetic counselors although increased euploid NT at prenatal diagnosis can be associated with a favorable outcome. Prenatal diagnosis of euploid increased NT should include a differential diagno...

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Autor principal: Chen, Chih-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944828/
https://www.ncbi.nlm.nih.gov/pubmed/36844761
http://dx.doi.org/10.4103/jmu.jmu_78_22
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author Chen, Chih-Ping
author_facet Chen, Chih-Ping
author_sort Chen, Chih-Ping
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description Prenatal diagnosis of euploid increased nuchal translucency (NT) remains a challenge to obstetricians and genetic counselors although increased euploid NT at prenatal diagnosis can be associated with a favorable outcome. Prenatal diagnosis of euploid increased NT should include a differential diagnosis of pathogenetic copy number variants and RASopathy disorders (RDs) including Noonan syndrome (NS). Therefore, chromosomal microarray analysis, whole-exome sequencing, RD testing, and protein-tyrosine phosphatase, nonreceptor type 11 (PTPN11) gene testing may be necessary under such a circumstance. In this report, a comprehensive review of NS with its prenatal diagnosis and genetic testing is presented.
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spelling pubmed-99448282023-02-23 Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing Chen, Chih-Ping J Med Ultrasound Review Article Prenatal diagnosis of euploid increased nuchal translucency (NT) remains a challenge to obstetricians and genetic counselors although increased euploid NT at prenatal diagnosis can be associated with a favorable outcome. Prenatal diagnosis of euploid increased NT should include a differential diagnosis of pathogenetic copy number variants and RASopathy disorders (RDs) including Noonan syndrome (NS). Therefore, chromosomal microarray analysis, whole-exome sequencing, RD testing, and protein-tyrosine phosphatase, nonreceptor type 11 (PTPN11) gene testing may be necessary under such a circumstance. In this report, a comprehensive review of NS with its prenatal diagnosis and genetic testing is presented. Wolters Kluwer - Medknow 2022-11-09 /pmc/articles/PMC9944828/ /pubmed/36844761 http://dx.doi.org/10.4103/jmu.jmu_78_22 Text en Copyright: © 2022 Journal of Medical Ultrasound https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Review Article
Chen, Chih-Ping
Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing
title Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing
title_full Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing
title_fullStr Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing
title_full_unstemmed Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing
title_short Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing
title_sort prenatal diagnosis of euploid increased nuchal translucency on fetal ultrasound (i): noonan syndrome: prenatal diagnosis and genetic testing
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944828/
https://www.ncbi.nlm.nih.gov/pubmed/36844761
http://dx.doi.org/10.4103/jmu.jmu_78_22
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