
Non-Invasive Prenatal Screening of Rare Fetal Genetic Diseases
- 1st Edition - May 28, 2026
- Latest edition
- Editor: Riyaz Ahmad Rather
- Language: English
Non-Invasive Prenatal Screening of Rare Fetal Genetic Diseases offers a comprehensive exploration of the latest advancements in non-invasive prenatal screening (NIPS) techno… Read more
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- 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 real-world application of NIPS in prenatal diagnostics
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
- Edition: 1
- Latest edition
- Published: May 28, 2026
- Language: English
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Riyaz Ahmad Rather
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.