Noninvasive prenatal testing (NIPT) : applied genomics in prenatal screening and diagnosis / edited by Lieve Page-Christiaens, Hanns-Georg Klein.

Format:

Book

Contributor:

Page-Christiaens, Lieve, editor.

Klein, Hanns-Georg, editor.

Language:

English

Subjects (All):

Prenatal diagnosis.

Genomics.

Genre:

Electronic books.

Physical Description:

1 online resource (xxvii, 377 pages) : illustrations

Other Title:

Applied genomics in prenatal screening and diagnosis

Place of Publication:

London, UK : Academic Press is an imprint of Elsevier, [2018]

System Details:

text file

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.

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

Notes:

Online resource; title from PDF title page (EBSCO, viewed August 22, 2018).

Includes bibliographical references and index.

Description based on online resource; title from electronic title page (ClinicalKey, viewed September 12, 2018).

Other Format:

Print version: Noninvasive prenatal testing (NIPT)

ISBN:

9780128141908

0128141905

OCLC:

1049149976

Access Restriction:

Restricted for use by site license.