Non-Invasive Prenatal Screening of Rare Fetal Genetic Diseases

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. It provides a detailed overview of current methods in NIPS technology, the application of NIPS in detecting rare genetic disorders, and ethical considerations. Sections cover 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, while also exploring specific genetic disorders, including Trisomy 18, Trisomy 13, Duchenne Muscular Dystrophy, Angelman Syndrome, Turner Syndrome, and Cri du Chat Syndrome.

Researchers will find this to be 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.

• Provides a comprehensive overview of advancements in NIPS technology for detecting rare fetal genetic disorders
• Discusses emerging trends, potential challenges, and ethical considerations in the application of NIPS
• Highlights practical insights and research findings that enhance prenatal care and screening methods
• Explores the integration of advanced genomic methods in NIPS, including Next-Generation Sequencing and SNP analysis
• Offers case studies and clinical examples to illustrate the practical application of NIPS in prenatal screening

Professor Riyaz Ahmad Rather is an early-career researcher focused on non-invasive prenatal screening (NIPS). His work explores cell-free fetal DNA biomarkers for detecting various fetal anomalies. Some of his recent publications include studies on the role of cell-free fetal DNA in identifying RhD status using different exons, optimizing methods for isolating cell-free fetal DNA, and leveraging AI to detect cell-free fetal DNA contents.

Presently, his lab is engaged in research projects that utilize NIPS with cell-free fetal nucleic acids to detect chromosomal disorders.