Professor Choy Kwong Wai Richard

CUHK Employment

Professor, Department of Obstetrics and Gynaecology, CUHK

Phone Number

+852 3505 3099



Prof. Choy is an expertise in genomic medicine and molecular diagnosis. He co-founded the Prenatal Genetic Diagnosis Centre and Pre-implantation Genetic Diagnosis Laboratory at CUHK. The Centre has been accredited by The National Association of Testing Authorities, Australia (NATA) in 2012 with partial funding support by the Hospital Authority. His current research focuses on the development of the genomic technologies including low-pass whole-genome sequencing (Low-pass WGS) for paediatrics, prenatal diagnosis and reproductive medicine. He is the board member of the Hong Kong Society of Medical Genetics, Scientific committee members of various international organizations including the Asia Pacific Congress in Maternal Fetal Medicine. He has contributed over 185 articles in international peer review journals. H index=36, He is an Editor board member of Human Genetics and Human Genome Variation.


PhD in Genetics, Department of Chemical Pathology, The Chinese University of Hong Kong

Research Interests

(1) Development of novel molecular diagnostic strategies and innovative applications of molecular analysis tools in prenatal diagnosis. One of my research foci is on the development of the genomic technologies including chromosomal microarray analysis (CMA) and Low-pass whole genome sequencing (Low-pass WGS) for prenatal diagnosis and reproductive medicine.

(2) Research in developmental genomic: studying human chromosome structure (copy number variation and chromosomal re-arrangements) and genome function (molecular mechanisms of normal and abnormal fetal development) in relation to birth defects and neurogenetics.


  • Genomic medicine
  • Prenatal and pre-implantation genetic diagnosis
  • Genetics


BSc (Brad.); MSc(Med) (Birm.); PhD (CUHK)

Award and Honour

2019 Excellent Research Award, Health Research Symposium 2019 awarded by Food and Health Bureau, The Government of Hong Kong SAR

2019 The Best Research team of the department, Department of Obstetrics & Gynaecology, CUHK

2018 Outstanding Contributions Award for Prevention and Control of Birth Defects awarded by The 13th International Conference on Genomics in Reproductive Health, China

2018 The Best Research team of the department, Department of Obstetrics & Gynaecology, CUHK

2016 The Best Scientific Paper by Teamwork, Department of Obstetrics & Gynaecology, CUHK

2011 苏州市科技进步二等奖 (Suzhou City Science and Technology Prize, China)

2009 Global Scholarship Programme for Research Excellence-CNOOC Grants for 2008-2009, CUHK

2008 Global Scholarship Programme for Research Excellence-CNOOC Grants for 2007-2008.CUHK

2006 Travel fellowship CDB symposium 2006, Kobe, Japan

2005 Abott travel awards, Hong Kong Society of Clinical Chemistry, Hong Kong. Boush & Lomb travel fellowship grants, Singapore.

2004 Action for Vision Young Researcher of the Year, Hong Kong

2002 The Retinoblastoma Foundation Travel Award, United States.


2018-present Core member, Hong Kong Hub Of Paediatric Excellence, CUHK Research Institute at Hong Kong Children’s Hospital, CUHK.

2016-present Core member, The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, CUHK.

2013-present Deputy Director, CUHK-University of Utrecht Joint Centre for Language, Mind and Brain, CUHK.

2013-present Director, Pre-implantation Genetic Diagnosis Laboratory, Department of Obstetrics & Gynaecology, CUHK.

2011-present Director, Prenatal Genetic Screening and Diagnosis Laboratory, Prince of Wales Hospital.

2011-present 研究员, 香港中文大学深圳研究院, 深圳

2009-present Associate Member and Adjunct Professor of the “Reproduction, Development and Endocrinology” Theme, School of Biomedical Sciences, CUHK.

2007-present Co-ordinator, Agilent Microarray Core Facilities, CUHK

2006-present Honorary Scientific Officer (Medical), New Territories East Cluster, Hospital Authority.

2005-present Deputy Director, Prenatal Genetic Diagnosis Centre, Department of Obstetrics & Gynaecology, CUHK


CHOY KW, DONG Z, CAO Y, YANG Z. Methods for detecting absence of heterozygosity by low-pass genome sequencing. US Provisional Application no: 62/894,491, filed on 08/30/2019

Business Leardership

2014- 2016 Chief Scientific Officer, Angsana Molecular & Diagnostics Laboratory Pte Ltd, Singapore. Managing Director, Angsana Molecular & Diagnostics Laboratory (HK) Ltd. Hong Kong


  • Dong Z, Chau MHK, Zhang Y, et al. Deciphering the complexity of simple chromosomal insertions by genome sequencing. Hum Genet. 2020 Jul 29. doi: 10.1007/s00439-020-02210-x. Online ahead of print.
  • Chau MHK, Wang H, Lai Y, et al. Low-pass genome sequencing: a validated method in clinical cytogenetics. Hum Genet. 2020 Nov;139(11):1403-1415. doi: 10.1007/s00439-020-02185-9. Epub 2020 May 25.
  • Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage. AJHG 2019 Dec; 105(6),1102-1111. doi: 10.1016/j.ajhg.2019.10.003.
  • Choy KW, Wang H, Shi M, et al. Prenatal Diagnosis of Fetuses with Increased Nuchal Translucency by Genome Sequencing Analysis. Front. Genet. 10:761. doi: 10.3389/fgene.2019.00761.