Autorentext

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.

Klappentext

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.

Inhalt

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