| 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.
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Genomics.
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Maternal-fetal exchange.
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Aneuploidy.
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Prenatal Diagnosis -- methods
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Cell-Free Nucleic Acids -- analysis
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Chromosome Disorders -- diagnosis
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Fetal Diseases -- diagnosis
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Maternal-Fetal Exchange
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Aneuploidy
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Sequence Analysis, DNA
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Genetic Testing -- methods
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Prenatal Diagnosis
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Genomics
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MEDICAL -- Gynecology & Obstetrics.
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Maternal-fetal exchange
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Aneuploidy
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Genomics
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Prenatal diagnosis
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| Form |
Electronic book
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| Author |
Page-Christiaens, Lieve, editor
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Klein, Hanns-Georg, editor.
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| ISBN |
9780128141908 |
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0128141905 |
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