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Rossa W.K. Chiu, MBBS, PhD

Outstanding Scientific Achievements by a Young Investigator

Dr. Chiu is a professor in the department of chemical pathology and assistant dean for research at the Chinese University of Hong Kong. She is also a consulting chemical pathologist at the New Territories East Cluster of Hospitals in Hong Kong, where she is involved in the chemical pathology service and heads the inborn errors of metabolism and molecular biology unit. Dr. Chiu has made significant contributions to research on circulating fetal nucleic acids for noninvasive prenatal diagnosis. She was the first to apply cell-free fetal DNA analysis in maternal plasma for the prenatal diagnosis of autosomal recessive diseases. She developed approaches for the noninvasive prenatal diagnosis of congenital adrenal hyperplasia and beta-thalassemia. She provided a means to noninvasively detect fetal mutations by scanning the genome of a fetus directly from a plasma sample of the mother. Dr. Chiu also developed methods based on massively parallel sequencing for the prenatal diagnosis of fetal aneuploidies. She was the first to perform a large-scale study to demonstrate the effectiveness of massively parallel sequencing of maternal plasma DNA for prenatal screening for Down syndrome. This approach has been adopted for clinical use worldwide and has resulted in major changes in the conventional practices of prenatal diagnosis. She has published more than 115 peer-reviewed research articles and 15 books or book chapters. She has delivered over 65 invited presentations and holds 20 patents or patent applications. She served as president of the Hong Kong Society of Clinical Chemistry. Dr. Chiu is on the AACC’s trainee council and the board of editors of Clinical Chemistry.