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

by Farlie, Richard , Christensen, Rikke , Schelde, Palle , Vogel, Ida , Hatt, Lotte , Singh, Ripudaman , Christensen, Inga B , Jeppesen, Line Dahl , Andreassen, Lotte , Uldbjerg, Niels , Nicolaisen, Bolette Hestbek , Kølvraa, Mathias , Ravn, Katarina

in 3p deletion / 3p26 deletion / Case Report / Case Reports / cell‐based noninvasive prenatal testing / Chromosomes / copy number variation / Data analysis / DNA methylation / Fetuses / Genetic counseling / Genomes / Gynecology / Laboratories / Noninvasive prenatal testing / Obstetrics / Prader‐Willi syndrome / Pregnancy / Software

2020

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

2020

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

2020

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Journal Article

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

Farlie, Richard,

Christensen, Rikke,

Schelde, Palle,

Vogel, Ida,

Hatt, Lotte,

Singh, Ripudaman,

Christensen, Inga B,

Jeppesen, Line Dahl,

Andreassen, Lotte,

Uldbjerg, Niels,

Nicolaisen, Bolette Hestbek,

Kølvraa, Mathias,

Ravn, Katarina

2020

Overview

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. 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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Publisher

John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley

Subject

/ cell‐based noninvasive prenatal testing

/ Chromosomes

/ copy number variation