عنوان

Noninvasive prenatal testing (NIPT) :

0128141905

9780128141908

0128141891

9780128141892

Noninvasive prenatal testing (NIPT) :

[Book]

applied genomics in prenatal screening and diagnosis /

edited by Lieve Page-Christiaens, Hanns-Georg Klein.

London, UK :

Academic Press is an imprint of Elsevier,

[2018]

©2018

1 online resource (xxvii, 377 pages) :

illustrations

Includes bibliographical references and index.

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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"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.

Ingram Content Group

9780128141908

Noninvasive prenatal testing (NIPT)

9780128141892

Applied genomics in prenatal screening and diagnosis

Genomics.

Prenatal diagnosis.

Aneuploidy.

Cell-Free Nucleic Acids-- analysis.

Chromosome Disorders-- diagnosis.

Fetal Diseases-- diagnosis.

Genetic Testing-- methods.

Maternal-Fetal Exchange.

Prenatal Diagnosis-- methods.

Sequence Analysis, DNA.

Genomics.

MEDICAL / Gynecology & Obstetrics.

Prenatal diagnosis.

MED-- 033000

Klein, Hanns-Georg

Page-Christiaens, Lieve

20200822085133.0

pn

[Book]

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