Limit search to available items
Book Cover

Title Noninvasive prenatal testing (NIPT) : applied genomics in prenatal screening and diagnosis / edited by Lieve Page-Christiaens, Hanns-Georg Klein
Published London, UK : Academic Press is an imprint of Elsevier, [2018]


Description 1 online resource (xxvii, 377 pages) : illustrations
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
Summary "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 Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation"--Publisher's description
Bibliography Includes bibliographical references and index
Notes Online resource; title from PDF title page (EBSCO, viewed August 22, 2018)
Online resource; title from electronic title page (ClinicalKey, viewed September 12, 2018)
Subject Prenatal diagnosis.
Maternal-fetal exchange.
Prenatal Diagnosis -- methods
Cell-Free Nucleic Acids -- analysis
Chromosome Disorders -- diagnosis
Fetal Diseases -- diagnosis
Maternal-Fetal Exchange
Sequence Analysis, DNA
Genetic Testing -- methods
Prenatal Diagnosis
MEDICAL -- Gynecology & Obstetrics.
Maternal-fetal exchange.
Prenatal diagnosis.
Form Electronic book
Author Page-Christiaens, Lieve, editor
Klein, Hanns-Georg, editor.
ISBN 9780128141908
Other Titles Applied genomics in prenatal screening and diagnosis