In recent 5 years, the Hospital Authority prenatal screening and diagnosis programme has been evolving with implementation of modern technologies. The use of second tier non-invasive prenatal testing (NIPT) through sequencing of maternal plasma cell-free DNA with higher sensitivity and specificity compared to conventional Down syndrome screening test can decrease the number invasive diagnostic procedures and their associated miscarriages. The chromosomal microarray analysis (CMA) performed on prenatal samples can expand the scope of prenatal genetic diagnosis from common aneuploidies to microdeletion and microduplication syndromes. Furthermore, the application of whole-exome sequencing (WES) or whole-genome sequencing (WGS) can further reveal the underling monogenetic disorders for unsolved complex fetal cases. In this lecture, we are delighted to share the performance of our recent work with the implementation of the above-mentioned advanced genetic technologies.
