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[null,null,"Titolo",null,"Noninvasive prenatal testing (NIPT) [[electronic resource] ] : applied genomics in prenatal screening and diagnosis / / edited by Lieve Page-Christiaens, Hanns-Georg Klein"]
[null,null,"Pubbl/distr/stampa",null,"London : , : Academic Press, , [2018]"]
[{"$nulls":4},"©2018"]
[null,null,"ISBN",null,"0-12-814190-5"]
[null,null,"Descrizione fisica",null,"1 online resource (xxvii, 377 pages) : illustrations"]
[null,null,"Disciplina",null,"52"]
[null,null,"Soggetti",null,"Prenatal diagnosis"]
[{"$nulls":4},"Diagnosis, Noninvasive"]
[{"$nulls":4},"Genetic Testing"]
[{"$nulls":4},"Prenatal Diagnosis"]
[{"$nulls":4},"DNA - blood"]
[null,null,"Lingua di pubblicazione",null,"Inglese"]
[null,null,"Formato",null,"Materiale a stampa"]
[null,null,null,"Livello bibliografico","Monografia"]
[null,null,null,"Nota di bibliografia","Includes bibliographical references and index."]
[null,null,"Nota di contenuto",null,"Section 1: Cell-freeDNA (CfDNA): overview and technology. Fetal DNA in maternal plasma: an amazing two decades -- Understanding the basics of next generation sequencing in the context of cell-free DNA based NIPT -- The technology and bioinformatics of cell-free DNA based NIPT -- Section 2: CfDNA in clinical practice. Prenatal screening for common aneuploidies before and after the introduction of cell-free DNA based NIPT -- Why cell-free DNA based NIPT for fetal chromosome anomalies is not diagnostic -- The role of cell-free DNA based NIPT in twin pregnancy -- Genomewide testing for autosomal trisomies and copy number variations -- Non-invasive fetal blood group typing -- Noninvasive prenatal diagnosis (NIPD) of monogenic disorders -- Maternal constitutional and acquired copy number variations (CNVs) -- Section 3: Clinical integration. Best practices for integrating cell-free DNA based NIPT into clinical practice -- Quality assurance and standardization of cell-free DNA based NIPT laboratory procedures -- Decisional support for expectant parents -- Cell-free DNA based NIPT and society -- Ethics of cell-free DNA based NIPT for sex chromosome aneuploidies and sex determination -- Cost-effectiveness of cell-free DNA based NIPT: summary of evidence and challenges -- Section 4: The future. Exome sequencing in the "]
[{"$nulls":4},"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"]
[null,null,null,"Sommario/riassunto","\"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."]