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