دانلود کتاب تست غیر تهاجمی قبل از تولد (NIPT)
Noninvasive Prenatal Testing (NIPT), 1ed

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

About the Author

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.

Contents

۱. Fetal DNA in Maternal Plasma: an amazing two decades
۲. Understanding the Basics of Next Generation Sequencing in the Context of Cell-free DNA based NIPT
۳. The Technology and Bioinformatics of Cell-free DNA based NIPT
۴. Prenatal Screening for Common Aneuploidies before and after the Introduction of Cell-free DNA based NIPT
۵. Why Cell-free DNA based NIPT for Fetal Chromosome Anomalies is not Diagnostic
۶. The role of cell-free DNA based NIPT in Twin Pregnancy
۷. Genomewide Testing for Autosomal Trisomies and Copy Number Variations
۸. Non-Invasive Fetal Blood Group Typing
۹. Noninvasive Prenatal Diagnosis (NIPD) of Monogenic Disorders
۱۰. Maternal Constitutional and Acquired Copy Number Variations (CNVs)
۱۱. Best Practices for Integrating Cell-free DNA based NIPT into Clinical Practice
۱۲. Quality Assurance and Standardization of Cell-free DNA based NIPT laboratory procedures
۱۳. Decisional support for expectant parents
۱۴. Cell-free DNA based NIPT and Society
۱۵. Ethics of Cell-free DNA based NIPT for sex chromosome aneuploidies and sex determination
۱۶. Cost-Effectiveness of Cell-free DNA based NIPT : Summary of Evidence and Challenges
۱۷. Exome Sequencing in the Evaluation of the Fetus with Structural Anomalies
۱۸. Cell-based NIPT: A Promising Path for Prenatal Diagnosis
۱۹. Maternal circulating nucleic acids as a marker of placental health
۲۰. Prenatal Treatment of Genetic Diseases in the unborn

قیمت : 4000 تومان

لینک کوتاه : https://bookbaz.ir/?p=100127
نویسنده : Lieve Page-Christiaens , Hanns-Georg Klein
ناشر : Academic Press; 1 edition
سال انتشار : 2018
زبان کتاب : انگلیسی
نوع فایل : PDF
تعداد صفحات : 408
(ISBN) شابک : 0128141891
قیمت کتاب درآمازون : $150.00
حجم فایل : 18 MB

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۴۰۰۰ تـومان – خرید