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Cell‐free DNA results lead to unexpected diagnosis

Maternal cell‐free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a “saw‐tooth” pattern characteristic of genome‐wide imbalance, maternal malignancy is suggested. Identifying the ma...

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Autores principales: Smith, Jessica, Kean, Victoria, Bianchi, Diana W., Feldman, Gerald, Petrucelli, Nancie, Simon, Michael, Gonik, Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538058/
https://www.ncbi.nlm.nih.gov/pubmed/28781851
http://dx.doi.org/10.1002/ccr3.1051
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author Smith, Jessica
Kean, Victoria
Bianchi, Diana W.
Feldman, Gerald
Petrucelli, Nancie
Simon, Michael
Gonik, Bernard
author_facet Smith, Jessica
Kean, Victoria
Bianchi, Diana W.
Feldman, Gerald
Petrucelli, Nancie
Simon, Michael
Gonik, Bernard
author_sort Smith, Jessica
collection PubMed
description Maternal cell‐free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a “saw‐tooth” pattern characteristic of genome‐wide imbalance, maternal malignancy is suggested. Identifying the maternal malignancy can, however, be difficult.
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spelling pubmed-55380582017-08-04 Cell‐free DNA results lead to unexpected diagnosis Smith, Jessica Kean, Victoria Bianchi, Diana W. Feldman, Gerald Petrucelli, Nancie Simon, Michael Gonik, Bernard Clin Case Rep Case Reports Maternal cell‐free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a “saw‐tooth” pattern characteristic of genome‐wide imbalance, maternal malignancy is suggested. Identifying the maternal malignancy can, however, be difficult. John Wiley and Sons Inc. 2017-07-03 /pmc/articles/PMC5538058/ /pubmed/28781851 http://dx.doi.org/10.1002/ccr3.1051 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Smith, Jessica
Kean, Victoria
Bianchi, Diana W.
Feldman, Gerald
Petrucelli, Nancie
Simon, Michael
Gonik, Bernard
Cell‐free DNA results lead to unexpected diagnosis
title Cell‐free DNA results lead to unexpected diagnosis
title_full Cell‐free DNA results lead to unexpected diagnosis
title_fullStr Cell‐free DNA results lead to unexpected diagnosis
title_full_unstemmed Cell‐free DNA results lead to unexpected diagnosis
title_short Cell‐free DNA results lead to unexpected diagnosis
title_sort cell‐free dna results lead to unexpected diagnosis
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538058/
https://www.ncbi.nlm.nih.gov/pubmed/28781851
http://dx.doi.org/10.1002/ccr3.1051
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