Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.

Detalles Bibliográficos
Autores principales: Hatt, Lotte, Singh, Ripudaman, Christensen, Rikke, Ravn, Katarina, Christensen, Inga B, Jeppesen, Line Dahl, Nicolaisen, Bolette Hestbek, Kølvraa, Mathias, Schelde, Palle, Andreassen, Lotte, Farlie, Richard, Uldbjerg, Niels, Vogel, Ida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752386/
https://www.ncbi.nlm.nih.gov/pubmed/33363780
http://dx.doi.org/10.1002/ccr3.3211
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author Hatt, Lotte
Singh, Ripudaman
Christensen, Rikke
Ravn, Katarina
Christensen, Inga B
Jeppesen, Line Dahl
Nicolaisen, Bolette Hestbek
Kølvraa, Mathias
Schelde, Palle
Andreassen, Lotte
Farlie, Richard
Uldbjerg, Niels
Vogel, Ida
author_facet Hatt, Lotte
Singh, Ripudaman
Christensen, Rikke
Ravn, Katarina
Christensen, Inga B
Jeppesen, Line Dahl
Nicolaisen, Bolette Hestbek
Kølvraa, Mathias
Schelde, Palle
Andreassen, Lotte
Farlie, Richard
Uldbjerg, Niels
Vogel, Ida
author_sort Hatt, Lotte
collection PubMed
description In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.
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spelling pubmed-77523862020-12-23 Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations Hatt, Lotte Singh, Ripudaman Christensen, Rikke Ravn, Katarina Christensen, Inga B Jeppesen, Line Dahl Nicolaisen, Bolette Hestbek Kølvraa, Mathias Schelde, Palle Andreassen, Lotte Farlie, Richard Uldbjerg, Niels Vogel, Ida Clin Case Rep Case Reports In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs. John Wiley and Sons Inc. 2020-08-09 /pmc/articles/PMC7752386/ /pubmed/33363780 http://dx.doi.org/10.1002/ccr3.3211 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the 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
Hatt, Lotte
Singh, Ripudaman
Christensen, Rikke
Ravn, Katarina
Christensen, Inga B
Jeppesen, Line Dahl
Nicolaisen, Bolette Hestbek
Kølvraa, Mathias
Schelde, Palle
Andreassen, Lotte
Farlie, Richard
Uldbjerg, Niels
Vogel, Ida
Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
title Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
title_full Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
title_fullStr Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
title_full_unstemmed Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
title_short Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
title_sort cell‐based noninvasive prenatal testing (cbnipt) detects pathogenic copy number variations
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752386/
https://www.ncbi.nlm.nih.gov/pubmed/33363780
http://dx.doi.org/10.1002/ccr3.3211
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