A pioneer test to identify chromosomal abnormalities

Infertility affects 1 in 6 couples locally and globally. Among them, recurrent miscarriages (RM) carry psychological and financial burdens for the affected couples. However, the aetiology of RM remains uncertain and leaves a management challenge for counselling and treatment. The team pioneered a genome-sequencing-based test for prenatal invasive genetic diagnosis in 2019. In 2020, they introduced an advanced version of the test to precisely identify RM-related chromosomal abnormalities. This new approach provided a comprehensive detection of the RM-related genetic defects with a significant increased diagnostic yield. (Am J Hum Genet. 2019 Dec 5;105(6):1102-1111. doi: 10.1016/j.ajhg.2019.10.003. Epub 2019 Oct 31.)

Anyone interested in future collaboration in this field of research is welcome to contact our key investigator Dr. Elvis DONG in Department of Obstetrics and Gynaecology, CUHK. Prof. Dong’s research focuses on clinical bioinformatics, prenatal genetic diagnosis, genome sequencing and genomic variants.