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Professor CHIU Wai Kwun, Rossa

Professor CHIU Wai Kwun, Rossa

Associate Dean (Development)

Professor, Department of Chemical Pathology

CUHK Employment
  • Associate Dean (Development), Faculty of Medicine
  • Professor, Department of Chemical Pathology
  • Professor, Li Ka Shing Institute of Health Sciences


  • Chemical Pathology
  • Molecular Diagnostics
  • Molecular Pathology
  • Genetics
  • Genomics


Education & Qualifications

MBBS(Qld), PhD(CUHK), FRCPA, FHKCPath, FHKAM (Pathology), FRCPA (Genetic Pathology)



Research Interests
  • Development of non-invasive prenatal diagnostic approaches
  • Development of non-invasive cancer diagnostic approaches
  • Clinical applications of circulating nucleic acid analysis
  • Understanding of the biology of circulating nucleic acids
  • Development of novel molecular diagnostic strategies and innovative applications of molecular analysis tools

Additional Information


Professional Service

  • Secretary to the Board of Directors, International Society of Prenatal Diagnosis
  • Board of Directors, International Society of Prenatal Diagnosis
  • Associate Editor, Clinical Chemistry
  • Editorial Board Member, Prenatal Diagnosis
  • Editorial Board Member, Clinical Biochemistry
  • Editorial Board Member, Clinical Chemistry and Laboratory Medicine


Academic Engagement in CUHK

  • Mentor, Medicine (MBChB) Programme Global Physician-Leadership Stream (GPS)
  • Member, Central Coordinating Committee of the Office of Medical Education
Selected Publications


  1. Hudecova I, Jiang P, Davies J, Lo YMD, Kadir RA, Chiu RWK (2017).Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers. Blood 130:340-7.
  2. Hui WW, Jiang P, Tong YK, Lee WS, Cheng YK, New MI, Kadir RA, Chan KCA, Leung TY, Lo YMD and Chiu RWK (2017). Universal haplotype-based noninvasive prenatal testing for single gene diseases. Clin Chem 63: 513-24.
  3. Benn P, Borrell A, Chiu RWK, Cuckle H, Dugoff L, Faas B, Gross S, Huang T, Johnson J, Maymon R, Norton M, Odibo A, Schielen P, Spencer K, Wright D and Yaron Y (2015). Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn 35: 725-34.
  4. Yu SCYJ, Chan KCA, Zheng YW, Jiang P, Liao GJW, Sun H, Akolekar R, Leung TY, Go AT, van Vugt JM, Minekawa R, Oudejans CBM, Nicolaides KH, Chiu RWK, Lo YMD (2014). Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc Natl Acad Sci U S A 111, 8583-8.
  5. *Lun FMF, *Chiu RWK, Sun K, Leung TY, Jiang P, Chan KCA, Sun H and Lo YMD (2013). Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA. Clin Chem. 59, 1583-94  (*Equal first authors).
  6. Yu SCYJ, Jiang P, Choy KW, Chan KCA, Won HS, Leung WC, Lau ET, Tang MH, Leung TY, Lo YMD and Chiu RWK (2013). Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One 8, e60968
  7. Chiu RWK, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KCA, Lun FMF, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YMD (2011). Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 342, c7401.
  8. Lo YMD, Chan KCA, Sun H, Chen EZ, Jiang P, Lun FMF, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RWK (2010). Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2, 61ra91.
  9. Chiu RWK, Chan KCA, Gao Y, Lau VYM, Zheng W, Leung TY, Foo CH, Xie B, Tsui NBY, Lun FMF, Zee BC, Lau TK, Cantor CR, Lo YMD (2008). Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A 105, 20458-63.
  10. Chiu RWK, Lau TK, Leung TN, Chow KCK, Chui DHK and Lo YMD (2002). Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 360, 998-1000.