Importance of Education

After a baby is born, parents will be overwhelmed by information and may have a hard time keeping track of what needs to be done. Furthermore, educating expectant parents before the delivery can help them make an informed decision. A recent survey conducted in Hong Kong1 showed that more than 99% of parents demanded public education on newborn screening and inborn errors of metabolism ("IEMs").

Patient Communication Checklist

Key Pointers about Newborn Metabolic Screening
  1. There is a possibility of parents carrying a certain metabolic disorder unknowingly which can be passed to the newborn;
  2. Early diagnosis and intervention can help prevent irreversible lifelong consequences;
  3. Newborn screening of metabolic disorders is painless and simple – through collection of urine specimen.
  4. 99% of the babies screened will be normal;
  5. Parents can sign up for newborn screening and obtain a collection kit either from their doctor or maternity hospital (depending on availability);

Screening Results

If there are clinical concerns about the newborn, the baby must be referred to a paediatrician regardless of the screen result or whether the result has been issued. If the result of the affected baby has not been released, please contact provider for immediate attention.
There are three possible screening results that can be expected:

Negative results

A negative screening outcome implies that metabolic analyte profile levels are within the normal range and the baby has very low risk of having one of the disorders screened for.

Healthcare providers will receive a summary of babies under their care with negative results. The detailed hard copy of these results will be stored in Cordlife’s medical databank. The report can be made available to healthcare professionals on request.

As with any laboratory results, false positive or false negative results cannot be completely eliminated due to various reasons including but not limited to the age of patient at the time of specimen collection, patient’s health status, specimen quality and other variables. Hence the risk of a disorder should never be precluded solely on the basis of screening. Signs or symptoms observed should be followed up immediately by a professional healthcare provider.

Unsuitable specimen

In the remote chance that a specimen is unsuitable for screening, a repeat specimen must be provided so that the baby can be screened for metabolic disorders.

    Specimens may be unsuitable due to:
  • Age of patient at the time of specimen collection
  • Insufficient urine collected
  • Contamination from other unwanted compounds with the specimen filter paper
  • Mouldy specimen (if filter paper was not dried enough)
Positive results
    If a newborn has been tested positive for metabolic disorder, the healthcare provider will be alerted to take immediate actions. Under such circumstance, Cordlife will provide guidance which may include:
  • Hard copy of screening results and information about the disorder suspected
  • Contact information of paediatrician for further consultation
  • Diagnostic testing to confirm the presence of any disorders.
1. Mak CM, Lam CW, Law CY, Siu WK, Kwong LLT, et al. Parental attitudes on expanded newborn screening in Hong, Public Health 126 (2012) 954-959