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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.
List of contents
Section 1 : Cell-freeDNA (CfDNA): Overview and Technology
1. Fetal DNA in Maternal Plasma: an amazing two decades
2. Understanding the Basics of Next Generation Sequencing in the Context of Cell-free DNA based NIPT
3. The Technology and Bioinformatics of Cell-free DNA based NIPT
Section 2 : CfDNA in Clinical Practice
4. Prenatal Screening for Common Aneuploidies before and after the Introduction of Cell-free DNA based NIPT
5. Why Cell-free DNA based NIPT for Fetal Chromosome Anomalies is not Diagnostic
6. The role of cell-free DNA based NIPT in Twin Pregnancy
7. Genomewide Testing for Autosomal Trisomies and Copy Number Variations
8. Non-Invasive Fetal Blood Group Typing
9. Noninvasive Prenatal Diagnosis (NIPD) of Monogenic Disorders
10. Maternal Constitutional and Acquired Copy Number Variations (CNVs)
Section 3 : Clinical Integration
11. Best Practices for Integrating Cell-free DNA based NIPT into Clinical Practice
12. Quality Assurance and Standardization of Cell-free DNA based NIPT laboratory procedures
13. Decisional support for expectant parents
14. Cell-free DNA based NIPT and Society
15. Ethics of Cell-free DNA based NIPT for sex chromosome aneuploidies and sex determination
16. 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 Anomalies
18. Cell-based NIPT: A Promising Path for Prenatal Diagnosis
19. Maternal circulating nucleic acids as a marker of placental health
20. Prenatal Treatment of Genetic Diseases in the unborn
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.
