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A Case of False Negative NIPT for Down Syndrome-Lessons Learned
Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine prenatal care, it is important to understand...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932282/ https://www.ncbi.nlm.nih.gov/pubmed/24649382 http://dx.doi.org/10.1155/2014/823504 |
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author | Smith, Meagan Lewis, Kimberly M. Holmes, Alexandrea Visootsak, Jeannie |
author_facet | Smith, Meagan Lewis, Kimberly M. Holmes, Alexandrea Visootsak, Jeannie |
author_sort | Smith, Meagan |
collection | PubMed |
description | Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine prenatal care, it is important to understand the risks, benefits, and limitations in order to guide patients in making an informed decision. Herein, we describe the first published case report of a patient whose fetus tested “negative” for Trisomy 21 by NIPT but was diagnosed postnatally with trisomy 21. We present the importance of proper pretest and posttest genetic counseling to ensure prenatal patients are able to make informed decisions and are educated appropriately about NIPT. |
format | Online Article Text |
id | pubmed-3932282 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-39322822014-03-19 A Case of False Negative NIPT for Down Syndrome-Lessons Learned Smith, Meagan Lewis, Kimberly M. Holmes, Alexandrea Visootsak, Jeannie Case Rep Genet Case Report Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine prenatal care, it is important to understand the risks, benefits, and limitations in order to guide patients in making an informed decision. Herein, we describe the first published case report of a patient whose fetus tested “negative” for Trisomy 21 by NIPT but was diagnosed postnatally with trisomy 21. We present the importance of proper pretest and posttest genetic counseling to ensure prenatal patients are able to make informed decisions and are educated appropriately about NIPT. Hindawi Publishing Corporation 2014 2014-02-04 /pmc/articles/PMC3932282/ /pubmed/24649382 http://dx.doi.org/10.1155/2014/823504 Text en Copyright © 2014 Meagan Smith et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Smith, Meagan Lewis, Kimberly M. Holmes, Alexandrea Visootsak, Jeannie A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
title | A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
title_full | A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
title_fullStr | A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
title_full_unstemmed | A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
title_short | A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
title_sort | case of false negative nipt for down syndrome-lessons learned |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932282/ https://www.ncbi.nlm.nih.gov/pubmed/24649382 http://dx.doi.org/10.1155/2014/823504 |
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