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News

State-of-the-art Screening for Babies-to-be

The Department of Obstetrics and Gynaecology of the Faculty of Medicine pioneered fetal DNA sequencing at genome-wide resolution for prenatal invasive genetic diagnosis, which offers more precise diagnostics of congenital disorders compared to traditional methods. While conventional karyotyping is missing out submicroscopic chromosomal abnormalities that account for 10% of fetuses with normal karyotype results, fetal DNA chip testing making use of chromosomal microarray analysis is highly reliant on the probe density of the target region. With whole genome sequencing, it provides genome-wide sequence information, and over the past five years, the CUHK team has developed and optimized whole genome analysis of micro-deletions and -duplications in fetus with an in-house analytic pipeline. With a throughput as high as 48 samples per run, the new technique was proven to be more precise than fetal DNA chip testing and the results were published in Genetics in Medicine.

This article was originally published in No. 544, Newsletter in Oct 2019.