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.

• 1. Introduction to rare genetic diseases in fetal development2. Emergence of non-invasive prenatal screening in clinical practice3. Advanced genomic methods in non-invasive prenatal screening4. Trisomy disorders: trisomy 21 (Down’s syndrome), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13)5. Sex chromosome aneuploidies: Klinefelter syndrome, triple X syndrome, and monosomy X (turner syndrome)6. Neurodevelopmental disorders: Angelman Syndrome & Duchenne Muscular Dystrophy7. Chromosomal deletion syndromes: DiGeorge syndrome and cri du chat syndrome8. Rare metabolic disorders: Alagille syndrome and hypophosphatasia9. Genetic disorders affecting growth and development: Prader—Willi syndrome and neurofibromatosis type 110. Ethical considerations in non-invasive prenatal screening

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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.

• 1. Introduction to rare genetic diseases in fetal development2. Emergence of non-invasive prenatal screening in clinical practice3. Advanced genomic methods in non-invasive prenatal screening4. Trisomy disorders: trisomy 21 (Down’s syndrome), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13)5. Sex chromosome aneuploidies: Klinefelter syndrome, triple X syndrome, and monosomy X (turner syndrome)6. Neurodevelopmental disorders: Angelman Syndrome & Duchenne Muscular Dystrophy7. Chromosomal deletion syndromes: DiGeorge syndrome and cri du chat syndrome8. Rare metabolic disorders: Alagille syndrome and hypophosphatasia9. Genetic disorders affecting growth and development: Prader—Willi syndrome and neurofibromatosis type 110. Ethical considerations in non-invasive prenatal screening

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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.

• 1. Introduction to rare genetic diseases in fetal development2. Emergence of non-invasive prenatal screening in clinical practice3. Advanced genomic methods in non-invasive prenatal screening4. Trisomy disorders: trisomy 21 (Down’s syndrome), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13)5. Sex chromosome aneuploidies: Klinefelter syndrome, triple X syndrome, and monosomy X (turner syndrome)6. Neurodevelopmental disorders: Angelman Syndrome & Duchenne Muscular Dystrophy7. Chromosomal deletion syndromes: DiGeorge syndrome and cri du chat syndrome8. Rare metabolic disorders: Alagille syndrome and hypophosphatasia9. Genetic disorders affecting growth and development: Prader—Willi syndrome and neurofibromatosis type 110. Ethical considerations in non-invasive prenatal screening

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