Noninvasive Prenatal Testing (NIPT)

Applied Genomics in Prenatal Screening and Diagnosis

Häftad, Engelska, 2018

AvLieve Page-Christiaens,Hanns-Georg Klein

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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.

Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects
Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants
Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT
Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques

Produktinformation

Utgivningsdatum2018-08-25
Mått191 x 235 x 23 mm
Vikt840 g
FormatHäftad
SpråkEngelska
Antal sidor405
FörlagElsevier Science
ISBN9780128141892

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Biovetenskap inom Naturvetenskap och teknik

Dr. Page-Christiaens currently serves as Associate Medical Director EMEA, Reproductive Genetic Health, Clinical Genomics Group, Illumina Inc. In the past, she has held a position as Associate Professor at the University Medical Center Utrecht, Department Obstetrics and Gynaecology, Utrecht, The Netherlands. Dr. Klein currently serves as Medical Geneticist and Chief Executive Officer at the Martinsried Center for Human Genetics and Laboratory Medicine, Martinsried, Germany, where he specializes in developing innovative molecular genetic screening tests. In the past, he has served as Senior Researcher at University Hospital München, München, Germany; Research Associate at the National Institutes of Health (USA); and Research Associate at the National Heart, Lung, and Blood Institute, Division of Intramural Research, Molecular Disease Branch.

Section 1 : Cell-freeDNA (CfDNA): Overview and Technology1. Fetal DNA in Maternal Plasma: an amazing two decades2. Understanding the Basics of Next Generation Sequencing in the Context of Cell-free DNA based NIPT3. The Technology and Bioinformatics of Cell-free DNA based NIPTSection 2 : CfDNA in Clinical Practice4. Prenatal Screening for Common Aneuploidies before and after the Introduction of Cell-free DNA based NIPT5. Why Cell-free DNA based NIPT for Fetal Chromosome Anomalies is not Diagnostic6. The role of cell-free DNA based NIPT in Twin Pregnancy7. Genomewide Testing for Autosomal Trisomies and Copy Number Variations8. Non-Invasive Fetal Blood Group Typing9. Noninvasive Prenatal Diagnosis (NIPD) of Monogenic Disorders10. Maternal Constitutional and Acquired Copy Number Variations (CNVs)Section 3 : Clinical Integration 11. Best Practices for Integrating Cell-free DNA based NIPT into Clinical Practice12. Quality Assurance and Standardization of Cell-free DNA based NIPT laboratory procedures13. Decisional support for expectant parents14. Cell-free DNA based NIPT and Society15. Ethics of Cell-free DNA based NIPT for sex chromosome aneuploidies and sex determination16. Cost-Effectiveness of Cell-free DNA based NIPT : Summary of Evidence and Challenges Section 4 : The Future 17. Exome Sequencing in the Evaluation of the Fetus with Structural Anomalies18. Cell-based NIPT: A Promising Path for Prenatal Diagnosis19. Maternal circulating nucleic acids as a marker of placental health20. Prenatal Treatment of Genetic Diseases in the unborn

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