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...

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Bibliographic Details
Call Number:Libro Electrónico
Other Authors: Page-Christiaens, Lieve (Editor), Klein, Hanns-Georg (Editor)
Format: Electronic eBook
Language:Inglés
Published: London, UK : Academic Press is an imprint of Elsevier, [2018]
Subjects:
Prenatal diagnosis.
Genomics.
Maternal-fetal exchange.
Aneuploidy.
Prenatal Diagnosis > methods
Cell-Free Nucleic Acids > analysis
Chromosome Disorders > diagnosis
Fetal Diseases > diagnosis
Maternal-Fetal Exchange
Aneuploidy
Sequence Analysis, DNA
Genetic Testing > methods
Prenatal Diagnosis
Genomics
Diagnostics pr�enatals.
G�enomique.
�Echange f�to-maternel.
Aneuplo�idie.
MEDICAL > Gynecology & Obstetrics.
Maternal-fetal exchange
Prenatal diagnosis
Fulltext.
Internet Resources.
Online Access:Texto completo
Table of Contents:
  • 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

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