Parenting is an arduous journey since the sparkling moment of conception. Parents often ride an emotional roller coaster when they learn about uncertainties of any congenital diseases or abnormalities such as Down syndrome, developmental delay, organ malformation or skeletal abnormalities. Fortunately, prenatal genetic and genomic (G/G) tests providing insightful information on the health and condition of the foetus are available to help make pregnancy journey less stressful.
In early 2019, Hospital Authority set up a Steering Group on Genetic and Genomic Services to spearhead the overall development of G/G services in HA. Moreover, HA Strategic Service Framework for Genetic and Genomic Services will be released soon to map out the development of G/G services, including prenatal diagnosis, for the next five to ten years.
Dr Leung Wing-cheong, Chairman of Central Committee on Genetic Services, explains the relationship between genome, chromosome, gene and Deoxyribonucleic acid (DNA) with an analogy. Imagine human genome is a book series with each book equivalent to a chromosome. Chapters are made up of words, as genes are made up of DNA.
Genes are basic physical and functional unit of heredity, having great impact on the growth and development of foetus. It is estimated that every human being has about 30,000 genes distributed over 23 pairs of chromosomes. Each gene has a different function, and controls different kinds of biological activities including foetal growth, metabolism, personality, cognition, proliferation, etc.