The journey of prenatal screening and diagnosis for our pregnant women & their families looks very much like the history of development of the MTR map in Hong Kong.
Milestones:
• 1970s: Amniocentesis & chorionic villus sampling for karyotyping introduced.
• 1980s: Routine ultrasound screening.
• 1990s: First & second trimester combined screening for Down syndrome.
• 2010: Universal Down syndrome screening for all pregnant women irrespective of maternal age.
• 2019: PCR & chromosomal microarrays on top of karyotyping.
• 2019: 2nd tier Non-invasive Prenatal Testing (NIPT) – maternal serum for fetal (placental) DNA.
• 2021: MDT – FMPRG (Fetal Medicine, Pathology, Radiology, Genetics/Genomics) web based platform selecting complex prenatal cases for WES or WGS.
HA's prenatal screening and diagnosis development has balanced cutting-edge technology with ethical governance, ensuring equitable access to our pregnant women. Future trends may focus on personalized genomics and AI-driven risk assessment and counselling.
