Investigation of the Genetic Etiology in Recurrent Miscarriage and Development of Related Detection Technology for Clinical Application

Professor CHOY Kwong-wai, Richard

Department of Obstetrics and Gynaecology, CUHK

This project is aimed to apply the state-of-the-art whole genome sequencing with our well-established analysis pipelines in a total number of 100 familial couples with recurrent miscarriages (RM) and their abortuses, for identification of 5-10 candidate genomic loci/various mutations related to RM. In addition, by mouse model and/or cell line model, we aim to define 3-5 RM associated loci/mutations. The outcome of this project will end up with a kit for clinical testing of the genetic etiology for the RM couples and/or their abortuses. In second phase, by validation with 200 samples from mainland and Hong Kong, we aim to have the information of the test regarding the detection rate and applicable patient population. Based on that, we aim to standardize the protocol and submit for patent filing. With that, we will initiate the clinical implementation of the test for 20~30 cases (free-of-charge) during this proposed grant period.