Clinical implementation of NIPT - technical and biological challenges.

Brady, P; Brison, N; Van Den Bogaert, K; de Ravel, T; Peeters, H; Van Esch, H; Devriendt, K; Legius, E; Vermeesch, J R

Brady, P; Brison, N; Van Den Bogaert, K; de Ravel, T; Peeters, H; Van Esch, H; Devriendt, K; Legius, E; Vermeesch, J R.

Afiliação

Brady P; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
Brison N; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
Van Den Bogaert K; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
de Ravel T; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
Peeters H; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
Van Esch H; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
Devriendt K; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
Legius E; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.
Vermeesch JR; Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.

Clin Genet ; 89(5): 523-30, 2016 05.

Article em En | MEDLINE | ID: mdl-25867715

ABSTRACT

ABSTRACT

Non-invasive prenatal testing (NIPT) for fetal aneuploidy detection is increasingly being offered in the clinical setting. Whereas the majority of tests only report fetal trisomies 21, 18 and 13, genome-wide analyses have the potential to detect other fetal, as well as maternal, aneuploidies. In this review, we discuss the technical and clinical advantages and challenges associated with genome-wide cell-free fetal DNA profiling.

Assuntos

Aneuploidia; DNA/genética; Doenças Fetais/diagnóstico; Diagnóstico Pré-Natal/métodos; Feminino; Doenças Fetais/genética; Estudo de Associação Genômica Ampla/métodos; Humanos; Gravidez; Reprodutibilidade dos Testes; Sensibilidade e Especificidade

Palavras-chave

cell-free DNA, (cfDNA); cell-free fetal DNA, (cffDNA); copy number variation, (CNV); genome sequencing; mosaicism; non-invasive prenatal testing, (NIPT); prenatal diagnosis

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / DNA / Doenças Fetais / Aneuploidia Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Bélgica

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