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Newborn Screening Program

  • Test For:

    More than 30 types of metabolic disorders

  • Sample type:

    Dried Blood Spot (DBS)

  • Turnaround time:

    About 5 working days


Inborn Errors of Metabolism (IEMs)

Inborn Errors of Metabolism are genetic disorders in which the body cannot metabolize the food properly. These defects can inhibit the production of some essential enzymes or cause the accumulation of toxic substances in newborns. Infants affected by IEMs can appear normal at birth, and therefore easy to be neglected. If the condition is left untreated, it may result in permanent neurological damages and even death.

About 1 in 4000 newborns in Hong Kong are suffering from IEMs. Although the incidence of IEMs is rare, it can cause detrimental and irreversible complications such as mental retardation, learning difficulties, organ dysfunction, or even mortality. These situations, however, are treatable nowadays with the aid of an effective screening test as early as a day after birth. Therefore, every newborn baby is recommended to join the metabolic screening program during early life to ensure the best possible outcome.



How the test is done?

utilizes Next Generation Sequencing technique and bioinformatics analysis on both maternal DNA and cell free placental DNA found in maternal blood. Compared to traditional screening methods based on nuchal translucency or maternal age, is more sensitive,reliable, accurate and informative.

  • During pregnancy, the fetus releases some of the cell-free DNA into the blood circulation of its mother.

  • DNA from the fetus is obtained by drawing 10mL of maternal blood.

  • Safe T21 express analyses the circulating cell-free DNA molecules by NGS technology followed by bioinformatics analysis.

  • The report containing the genetic information of the fetus will be available in 5 working days.

Why choose

offers screening for twins, triplets, and in vitro fertilization (IVF) cases

  • Accurate result and fast turnaround time
    - Report is available in around 5 working days
    - Positive / Negative results
    - Endorsed by CUHK Obstetrics and Gynaecology medical professionals
  • Early detection that is safe and comprehensive
    - ONLY 10mL of maternal blood is required
    - No fasting is needed
    - No miscarriage risks
  • All rounded care
    - Support from CUHK professors for positive or special cases
    - Sponsorship for positive cases invasive diagnostic test laboratory test fee (valued at HKD$4000)
  • Exclusive licensee in Hong Kong
    - Exclusive patent from the Chinese University of Hong Kong for the provision of NIPT services in HK

Reference

  • YM Lo et al. 1997, ‘Presence of fetal DNA in maternal plasma and serum’, The lancet, vol. 350, pp.485-487