| Document Type
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BL
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| Record Number
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872486
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| Title & Author
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Noninvasive prenatal testing (NIPT) : : applied genomics in prenatal screening and diagnosis /\ edited by Lieve Page-Christiaens, Hanns-Georg Klein.
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| Publication Statement
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London, UK :: Academic Press is an imprint of Elsevier,, [2018]
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, ©2018
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| Page. NO
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1 online resource (xxvii, 377 pages) :: illustrations
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| ISBN
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0128141905
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: 9780128141908
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0128141891
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9780128141892
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| Bibliographies/Indexes
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Includes bibliographical references and index.
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| Contents
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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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| Abstract
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"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.
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| Subject
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Genomics.
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Prenatal diagnosis.
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Genomics.
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MEDICAL / Gynecology Obstetrics.
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Prenatal diagnosis.
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Cell-Free Nucleic Acids-- analysis.
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Prenatal Diagnosis-- methods.
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Aneuploidy.
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Chromosome Disorders-- diagnosis.
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Fetal Diseases-- diagnosis.
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Genetic Testing-- methods.
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Maternal-Fetal Exchange.
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Sequence Analysis, DNA.
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| Dewey Classification
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618.3/2075
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| LC Classification
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RG628
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| NLM classification
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WQ 209
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| Added Entry
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Klein, Hanns-Georg
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Page-Christiaens, Lieve
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| Parallel Title
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Applied genomics in prenatal screening and diagnosis
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