Newborn Metabolic Screening
Screening Details
Early diagnosis is the key to IEM treatment.
By completing a simple screening within the first few days of a child’s birth, parents will be able to detect potentially fatal health risks and determine appropriate treatments at an early stage. Although it is rare for a child to have an IEM, every child is still at risk. We recommend that every baby take a newborn metabolic screening.
Currently there are two screening methods; both are completed by extracting urine or blood samples for assessment. The international standard testing method in many overseas countries uses a blood spot sample for testing. The Newborn Metabolic Screening by The Chinese University of Hong Kong (CUHK) uses the highly-accurate blood test method to effectively screen for over 30 kinds of IEM disorders (link to 3B) in newborns, including most treatable disorders (amino acid disorders, fatty acid oxidation disorders and organic acid disorders).
First 7 Days – The Crucial Screening Period
The newborn metabolic screening procedure is very simple. Completed by professional personnel at CUHK, a few drops of blood are collected onto a card by pricking the baby's heel, and results will be available after a few days. It is strongly recommended that newborn babies complete blood sample screening within the first 7 days of birth – 1 day after the baby has completed oral feeding, and within 7 days after birth (the best time is between 48 to 72 hours), to obtain the most accurate diagnosis.
Most babies (98% to 99%) will have normal blood screening results, meaning that the baby has a low risk of suffering from metabolic disorders. If the results are positive, the baby has a high risk of suffering from IEM disorders, and should immediately be referred to pediatricians for further clinical assessments, diagnostic examinations and treatments. Very rarely (about 1%) of results are undefined, in which case parents will be contacted to arrange another screening.
Blood screening is highly accurate. However, as with any type of lab screening technology, it is possible in extremely rare cases that IEM traits may not be detected (false-negative results), while some healthy babies are suspected of having IEM disorders (false-positive results). Diagnostic testing will need to be carried out for all cases with abnormal screening results, to ensure an accurate IEM diagnosis.
Source: Maternal Fetal Medicine Unit, The Chinese University of Hong Kong
