The Chinese University of Hong Kong & Prince of Wales Hospital

Department of Obstetrics and Gynaecology
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Dr. Chau Hoi Kin Matthew

Dr. Chau Hoi Kin, Matthew Research Assistant Professor
(852) 3505 1538 matthewchau@cuhk.edu.hk

Biography

Dr Chau is a Research Assistant Professor and Assistant Laboratory Director of the Prenatal Genetic Diagnostic Laboratory and Preimplantation Genetic Testing Laboratory at the Department of Obstetrics and Gynaecology, the Chinese University of Hong Kong. Dr Chau completed an MSc in Medical Genetics and a PhD in Obstetrics and Gynaecology at the Chinese University of Hong Kong. He also completed the ACGME-accredited Laboratory Genetics and Genomics Fellowship at Baylor College of Medicine. He is trained in both cytogenetics and molecular genetic laboratory diagnostics and has expertise across a breadth of areas in laboratory genetic diagnostics, including prenatal and postnatal genetic investigation, adult genetic testing and oncology, and preimplantation genetic testing in reproductive medicine.

His research focuses on studying structural genomic variations and their contribution to human diseases, the development and implementation of novel molecular diagnostic methods in prenatal diagnosis, novel disease gene discovery, and investigating missing or underrecognized disease-causing genetic variants that are challenging to detect by standard genetic approaches. Dr Chau has contributed to 31 publications in international peer-reviewed journals, with a total citation of 459 and an H-index of 12.

Education

  • ACGME-Accredited Fellowship in Laboratory Genetics and Genomics (BCM)
  • PhD in Obstetrics and Gynaecology (CUHK)
  • MSc in Medical Genetics (CUHK)
  • BSc in Biology (UBC)

Research Interest(s)

  • Studying structural genomic variations and their contribution to human diseases
  • Novel mendelian disease gene discovery
  • Development and implementation of novel molecular diagnostic methods in prenatal diagnosis
  • Investigating missing or underrecognized disease-causing genetic variants that are challenging to detect by standard genetic approaches

Specialisations

  • Laboratory genetic and genomic diagnostics
  • Prenatal and preimplantation genetic genetics
  • Molecular genetics
  • Cytogenomics

Qualifications

  • Fellow of the American College of Medical Genetics and Genomics
  • Diplomate of the American Board of Medical Genetics and Genomics
  • PhD in Obstetrics and Gynaecology (CUHK)
  • MSc in Medical Genetics (CUHK)
  • BSc in Biology (UBC)

Awards and Honours

  • Gold Medal, 5th Asia Exhibition of Innovations and Inventions Hong Kong (2025)
  • Gold Medal with Congratulations of the Jury, 15th International Invention Fair in The Middle East, Kuwait (2025)
  • Best Laboratory Fellow Award, Department of Molecular and Human Genetics, Baylor College of Medicine (2024)
  • Reviewer’s Choice Award, top 10% of poster abstracts, American Society of Human Genetics (2023)
  • Research Committee’s One-off Impact Postdoctoral Fellowship Scheme (IPDFS), The Chinese University of Hong Kong, HKSAR (2021)
  • Reaching Out Award, HKSAR Government Scholarship Fund (2021)
  • Best Postgraduate Student of the Department of Obstetrics and Gynaecology, CUHK (2021)
  • Best Postgraduate Student of the Department of Obstetrics and Gynaecology, CUHK (2020)
  • Best Postgraduate Student of the Department of Obstetrics and Gynaecology, CUHK (2019)
  • Dragon Culture PhD Scholarship for Medical Studies (2019/2020)

Others

  • 2024-present Honorary Scientific Officer (Medical), Department of Obstetrics and Gynaecology, Prince of Wales Hospital, New Territories East Cluster, Hospital Authority
  • 2025-present Full Member, Hong Kong Hub of Obstetrics and Paediatric Excellence, CUHK Research Institute at Hong Kong Children’s Hospital, CUHK
  • 2025-present Fellow, American College of Medical Genetics and Genomics
  • 2025-present Diplomate, American Board of Medical Genetics and Genomics
  • 2025-present Board Member, Hong Kong Society of Cytogenomics
  • 2023-present Member, American Society of Human Genetics
  • 2023-present Member, Association of Chinese Geneticists in America
  • 2025-present Member, Hong Kong Society for Reproductive Genetics
  • 2025-present Member, Asia Pacific Initiative on Reproduction
  • 2024-present Honorary advisor, Hong Kong Medical Genetics and Genomics Student Society

Patent

Methods to Determine Maternity, Paternity, or Parentage and Computer Systems for Implementation. Filed: U.S. Non-provisional Patent Application No. 18/672,159; International Patent Application No. PCT/CN2024/096268

Researcher ID

1
Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype–Phenotype Correlations, and Outcomes Zheng Y, Shi M, Zhao Y, Chung TCY, Chau MHK, Dong Z, Kwok YKY, Kwan HWA, Chong JSC, Leung TY, Lo TK, Choy KW, Zhang Y, Cao Y* Diagnostics, 2026 Jun;16(11):1723
2
NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort Zhao Y, Zou G, Shi M, Law KM, Lau SL, Meng M, Ting YH, Poon CYL, Dong Z, Chau MHK, Leung TY, Choy KW, Zhang X, Cao Y Prenatal Diagnosis, 2026 May; 46(5-6):914-923
3
Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach Li Y, Chau MHK, Zhang YX, Gui BH, Lui WT, Lam CMV, Cao Y, Chung TCY, Wu CC, Ip PN , Chan DYL, Kwok YKY, Chung JPW, Choy KW* Human Reproduction Open, 2026 May;2026(3):hoag044
4
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila Müller F, Neuser S, Shrestha G, Neupane NP, Götze KJ, Brunetti-Pierri N, Terrone G, Reymond A, van Gassen KL, Brilstra E, Steindl K, Begemann A, Rauch A, Rips J, Fahham D, Barakat TS, Patat O, Mortreux J, Chau MHK, Rosenfeld JA, Mizeriks E, Srivastavas S, Luo X, Dahsea A , Scholz N, Dase J, Romand G, Langenhana T, Jamrab RA, Mrestania A, Ljaschenkoa D Biochemistry and Biophysics Reports, 2026 Mar;45:102375
5
Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory Zhu Y, Chau MHK, Wang H, Song N, Wei R, Suen KW, Chan CSA, Hung WC, Cao Y, Dong Z, Leung TY, Cheung SW, Choy KW Human Genetics, 2025 Dec; 144(11-12):1269-1276
6
Detection of clinically relevant monogenic copy-number variants by a comprehensive genome-wide microarray with exonic coverage Chau MHK, Anderson SA, Song R, Cooper L, Ward PA, Yuan B, Shaw C, Stankiewicz PT, Cheung SW, Vossaert L, Owen NM, Smith J, Bacino CA, Schulze KV, Bi W Clin Chem. 2025 Jan 3;71(1):141-154
7
Mate-pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics Qian J, Wang H, Liang H, Zheng Y, Yu M, Tse WT, Kwan AHW, Wong L, Wong NKL, Wah IYM, Lau SL, Hui ASY, Chau MHK, Chen X, Zhang R, Poon L C, Leung TY, Liu P, Choy KW, Dong Z Clin Chem. 2025 Jan 3;71(1):155-168
8
Contribution of Genomic Imbalance in Prenatal Congenital Anomalies of the Kidney and Urinary Tract: A Multi-Center Cohort Study Li K, Wang H, Chau MHK, Dong Z, Cao Y, Zheng Y, Leung TY, Choy KW, Zhu Y Prenat Diagn. 2024 Nov;44(12):1451-1461
9
Genome sequencing in the prenatal diagnosis of structural malformations in the fetus Chau MHK, Choolani M, Dong Z, Cao Y, Choy KW Best Pract Res Clin Obstet Gynaecol. 2024 Sep 13:102539
10
A Pilot Investigation of Low-pass Genome Sequencing Identifying Site-Specific Variation in Chromosomal Mosaicisms by a Multiple Site Sampling Approach in First-trimester Miscarriages Li Y, Chau MHK, Zhang YX, Zhao YL, Xue SW, Li TC, Cao Y, Dong Z, Choy KW, Chung JPW Hum Reprod. 2023 Aug 1;38(8):1628-1642
11
Low-pass genome sequencing-based detection of paternity: validation in clinical cytogenetics Li K, Zhao Y, Chau MHK, Cao Y, Leung TY, Kwok YK, Choy KW, Dong Z Genes 2023 Jul; 14(7):1357
12
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility Dong Z, Qian J, Law TSM, Chau MHK, Cao Y, Xue S, Tong S, Zhao Y, Kwok YK, Ng K, Chan DYL, Chiu PKF, Ng CF, Chung CHS, Mak JSZM, Leung TY, Chung JPW, Morton CC, Choy KW Hum Genet. 2023 Mar;142(3):363-377
13
TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms Zhou Z, Tan C, Chau MHK, Jiang X, Ke Z, Chen X, Cao Y, Kwok YK, Bellgard M, Leung TY, Choy KW, Dong Z Nucleic Acids Res. 2023 Jan 6;51(D1):D1168-D1178
14
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects Cao Y, Chau MHK, Zheng Y, Zhao Y, Kwan AHW, Hui SYA, Lam YH, Tan TYT, Tse WT, Wong L, Leung TY, Dong Z, Choy KW Prenat Diagn. 2022 Jun;42(7):862-872. (Impact factor (2022): 3.0, citations: 6
15
Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing Chau MHK, Li Y, Dai P, Shi M, Zhu X, Chung JPW, Kwok YK, Choy KW, Kong X, Dong Z Asian J Androl. May-Jun 2022;24(3):248-254
16
The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing Mitchell CO, Rivera-Cruz G, Chau MHK, Dong Z, Choy KW, Shen J, Amr S, Giersch ABS, Morton CC Int J Neonatal Screen. 2022 May 27;8(2):36
17
Investigation of chromosomal structural abnormalities in patients with undiagnosed neurodevelopmental disorders Cao Y, Luk HM, Zhang YY, Chau MHK, Xue S, Cheng SSW, Li AM, Chong JSC, Leung TY, Dong Z, Choy KW, Lo IFM Front Genet. 2022 Apr 14;13:803088
18
Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis Chau MHK, Qian J, Chen Z, Li Y, Zheng Y, Tse WT, Kwok YK, Leung TY, Dong Z, Choy KW Front Genet. 2021 Sep 20;12:742325
19
Contribution of Pathogenic CNVs and Noonan Syndrome in Fetuses with Increased Nuchal Translucency and Persistently Increased Nuchal Fold Lin Y, Wang H, Chau MHK, Lou J, Zeng X, Liang Y, et al. Austin J Obstet Gynecol. 2021; 8(3): 1174
20
Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YMI, Kwok YK, Leung TY, Morton C, Choy KW Genet Med. 2021 Jul;23(7):1225-1233
21
The role of chromosomal microarray and exome sequencing in prenatal diagnosis Chau MHK, Choy KW Curr Opin Obstet Gynecol. 2021 Apr 1;33(2):148-155
22
Clinical utility of expanded non-invasive prenatal screening and chromosomal microarray analysis in high-risk pregnancy Zhu X, Chen M, Wang H, Guo Y, Chau MHK, Yan H, Cao Y, Kwok YKY, Chen J, Hui ASY, Zhang R, Meng Z, Zhu Y, Leung TY, Xiong L, Kong X, Choy KW Ultrasound Obstet Gynecol. 2021 Mar;57(3):459-465
23
Deciphering the complexity of simple chromosomal insertions by genome sequencing Dong Z, Chau MHK, Zhang Y, Dai P, Zhu X, Leung TY, Kong X, Kwok YK, Stankiewicz P, Cheung SW, Choy KW Hum Genet. 2021 Feb;140(2):361-380
24
The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings Hui ASY, Chau MHK, Chan YM, Cao Y, Kwan AHW, Zhu X, Kwok YKY, Chen Z, Lao TTH, Choy KW, Leung TY Acta Obstet Gynecol Scand. 2021 Feb;100(2):235-243
25
Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review Zhu X, Lam DYM, Chau MHK, Xue S, Dai P, Zhao G, Cao Y, Cheung SWH, Kwok YKY, Choy KW, Kong X, Leung TY Genes (Basel). 2020 Dec 24;12(1):E11
26
Low-pass genome sequencing: a validated method in clinical cytogenetics. Chau MHK, Wang H, Lai Y, Zhang Y, Xu F, Tang Y, Wang Y, Chen Z, Leung TY, Chung JPW, Kwok YK, Chong SC, Choy KW, Zhu Y, Xiong L, Wei W, Dong Z Hum Genet. 2020 Nov;139(11):1403-1415
27
The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome Chau MHK, Lam YKD, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung WH, Lau TK, Ville Y, Leung TY, Choy KW Prenat Diagn. 2020 Jul;40(8):1005-1012
28
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis Wang H, Dong Z, Zhang R, Chau MHK, Yang Z, Tsang K, Wong HK, Gui B, Meng Z, Xiao K, Zhu X, Wang Y, Chen S, Leung TY, Cheung SW, Kwok YK, Morton CC, Zhu Y, Choy KW Genet Med, 2020 Mar;22(3):500-510
29
Clinical utility of noninvasive prenatal screening for pathogenic copy number variants REPLY Chau MHK, Sahota DS, Choy KW Am J Obstet Gynecol. 2019 Dec;221(6):661-662.
30
Prenatal Diagnosis of Fetuses with Increased Nuchal Translucency by Genome Sequencing Analysis Choy KW, Wang H, Shi M, Chen J, Yang Z, Zhang R, Yan H, Wang Y, Chen S, Chau MHK, Cao Y, Chan OYM, Kwok YKY, Zhu Y, Chen M, Leung TY, Dong Z Front Genet. 2019 Aug; volume 10:761 (14 pages)
31
Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis Chau MHK, Cao Y, Kwok YKY, Chan S, Chan YM, Wang H, Yang Z, Wong HK, Leung TY, Choy KW American Journal of Obstetrics and Gynecology 2019;221(5):493e1-e11.
32
Chromosome copy number variants in fetuses with syndromic malformations Wang H, Chau MHK, Cao Y, Kwok KY, Choy KW Birth Defects Res. Jun 2017 ;109(10):725-733