- ホーム
- > 洋書
- > 英文書
- > Science / Mathematics
Full Description
Non-Invasive Prenatal Screening of Rare Fetal Genetic Diseases offers a comprehensive exploration of the latest advancements in non-invasive prenatal screening (NIPS) technologies and their application in detecting rare fetal genetic disorders. This book serves as an essential resource for healthcare professionals, researchers, and clinicians involved in prenatal care and genetic counseling. The main theme of the book is the exploration of NIPS methods, focusing on their application for the detection of rare fetal genetic disorders and their role in modernizing prenatal care practices. The book provides a detailed overview of the current methods in NIPS technology, the application of NIPS in detecting rare genetic disorders, and the ethical considerations involved. The book delves into advanced genomic methods such as Next-Generation Sequencing, Single-Nucleotide Polymorphism analysis, and Comparative Genomic Hybridization, highlighting their impact on the accuracy and scope of NIPS. It also covers specific genetic disorders, including Trisomy 18, Trisomy 13, Duchenne Muscular Dystrophy, Angelman Syndrome, Turner Syndrome, and Cri du Chat Syndrome, providing practical insights and case studies to illustrate real-world applications. This book addresses the need for up-to-date information on NIPS for detecting rare genetic disorders, offering a thorough exploration of emerging trends, potential challenges, and ethical considerations. Researchers will find it a valuable resource for understanding and applying NIPS protocols in their work, while clinicians will benefit from practical insights on appropriate screening methods, interpreting NIPS results, and counseling expectant parents. This book is an essential resource for researchers in obstetrics and gynecology, genetic counselors, and professionals in the biotechnology and pharmaceutical industries. It equips readers with the knowledge and tools needed to advance their work and improve prenatal care practices.
Contents
1. Introduction to Rare Genetic Diseases in Fetal Development
2. Emergence of Non-Invasive Prenatal Screening in Clinical Practice
3. Advanced Genomic Methods in Non-Invasive Prenatal Screening
4. Trisomy Disorders: Edwards Syndrome (Trisomy 18) and Patau Syndrome (Trisomy 13)
5. Neurodevelopmental Disorders: Duchenne Muscular Dystrophy and Angelman Syndrome
6. Chromosomal Abnormalities: Turner Syndrome and Cri du Chat Syndrome
7. Rare Metabolic Disorders: Alagille Syndrome and Hypophosphatasia
8. Genetic Disorders Affecting Growth and Development: Prader-Willi Syndrome and Neurofibromatosis Type 1
9. Ethical Considerations in Non-Invasive Prenatal Screening
