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

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.

Afiliação

Hatt L; ARCEDI Biotech ApS Vejle Denmark.
Singh R; ARCEDI Biotech ApS Vejle Denmark.
Christensen R; Center for Fetal Diagnostics Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark.
Ravn K; ARCEDI Biotech ApS Vejle Denmark.
Christensen IB; ARCEDI Biotech ApS Vejle Denmark.
Jeppesen LD; ARCEDI Biotech ApS Vejle Denmark.
Nicolaisen BH; ARCEDI Biotech ApS Vejle Denmark.
Kølvraa M; ARCEDI Biotech ApS Vejle Denmark.
Schelde P; ARCEDI Biotech ApS Vejle Denmark.
Andreassen L; Center for Fetal Diagnostics Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark.
Farlie R; Department of Women's Disease and Birth Viborg Hospital Viborg Denmark.
Uldbjerg N; Department of Women's Disease and Birth Aarhus University Hospital Aarhus Denmark.
Vogel I; Department of Clinical Medicine Aarhus University Aarhus Denmark.

Clin Case Rep ; 8(12): 2561-2567, 2020 Dec.

Article em En | MEDLINE | ID: mdl-33363780

ABSTRACT

ABSTRACT

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.

Palavras-chave

3p deletion; 3p26 deletion; Noninvasive prenatal testing; PraderWilli syndrome; cellbased noninvasive prenatal testing; copy number variation

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Texto completo: 1 Bases de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2020 Tipo de documento: Article