Noninvasive prenatal testing (NIPT) : applied genomics in prenatal screening and diagnosis /
"Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With...
Clasificación: | Libro Electrónico |
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Otros Autores: | , |
Formato: | Electrónico eBook |
Idioma: | Inglés |
Publicado: |
London, UK :
Academic Press is an imprint of Elsevier,
[2018]
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Temas: | |
Acceso en línea: | Texto completo |
Tabla de Contenidos:
- Section 1: Cell-freeDNA (CfDNA): overview and technology. Fetal DNA in maternal plasma: an amazing two decades
- Understanding the basics of next generation sequencing in the context of cell-free DNA based NIPT
- The technology and bioinformatics of cell-free DNA based NIPT
- Section 2: CfDNA in clinical practice. Prenatal screening for common aneuploidies before and after the introduction of cell-free DNA based NIPT
- Why cell-free DNA based NIPT for fetal chromosome anomalies is not diagnostic
- The role of cell-free DNA based NIPT in twin pregnancy
- Genomewide testing for autosomal trisomies and copy number variations
- Non-invasive fetal blood group typing
- Noninvasive prenatal diagnosis (NIPD) of monogenic disorders
- Maternal constitutional and acquired copy number variations (CNVs)
- Section 3: Clinical integration. Best practices for integrating cell-free DNA based NIPT into clinical practice
- Quality assurance and standardization of cell-free DNA based NIPT laboratory procedures
- Decisional support for expectant parents
- Cell-free DNA based NIPT and society
- Ethics of cell-free DNA based NIPT for sex chromosome aneuploidies and sex determination
- Cost-effectiveness of cell-free DNA based NIPT: summary of evidence and challenges
- Section 4: The future. Exome sequencing in the evaluation of the fetus with structural anomalies
- Cell-based NIPT: a promising path for prenatal diagnosis
- Maternal circulating nucleic acids as a marker of placental health
- Prenatal treatment of genetic diseases in the unborn