非侵襲的出生前検査のための応用ゲノム学 Noninvasive Prenatal Testing (NIPT) : Applied Genomics in Prenatal Screening and Diagnosis

Page-Christiaens, Lieve (EDT)/ Klein, Hanns-Georg (EDT)

Academic Press Inc（2018/08発売）

• 製本 Paperback:紙装版/ペーパーバック版／ページ数 405 p.
• 言語 ENG
• 商品コード 9780128141892
• DDC分類 618.32075

Full Description

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.

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