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FAQ

 

About Newborn Screening and Metascreen

Many of these metabolic disorders (also known as inborn errors of metabolism) can cause developmental issues and lifelong complications such as mental retardation, physical disability and in some instances, death if it left untreated. Screening your newborn for metabolic disorders will help facilitate early intervention and prevent long term detrimental effects to your baby’s health.

Metascreen panel (Meta100+) is the most comprehensive newborn screening program that detects more than 100 metabolic disorders through a simple and painless urine test. Metascreen can detect metabolic disorders from the following groups:

  • Amino acid disorders
  • Organic acid disorders
  • Disorders of sugar metabolism
  • Disorders of fatty acid metabolism
  • Peroxisomal diseases
  • Disorders of purine, pyrimidine metabolism
  • Lactic acidemia and hyperpyruvic acidemia
  • Other inborn errors or metabolism

To compare the various Metascreen packages available, please click here. To enrol Metascreen now, please click here.

We use a gas-chromatography mass spectrometry (GC/MS) technology manufactured by Shimadzu, Japan. After processing the urine specimen through GC/MS, we analyse the GC/MS data using a planar diagnostic tool, first developed by Japanese researchers. The planar diagnostic tool makes use of multiple analytes from more than one biochemical (metabolic) pathway to identify a single metabolic disorder. This means that the results would be more reliable and accurate than traditional technology using mass tandem spectrometry (MS/MS) because MS/MS only uses about 1 or 2 analyte profiles for each disorder, and often, the same analyte profile is used for multiple disorders.

From the population studies done in Japan1, 2 where 40,283 newborns were screened for various inherited metabolic disorders, 17 cases were discovered and there have been no reported false-positive or false-negative cases, which makes GC/MS testing (Metascreen Platform) highly accurate and reliable. Another study conducted in Missouri, U.S., on 13,242 patients using the GC/MS platform successfully confirmed 184 IEM cases with no reported errors3,4. In our partner institute in India5, they have to date screened more than 5,000 newborns, and reported 18 true positives, with no false-positive or false-negative case.

References:
[1] Kuhara T. J Chromatography B, 758 (2001) 3-25.
[2] Kuhara T. J Chromatography B, 731 (1999) 141-147.
[3] Shoemaker J. D., J Vis Exp, 40 (2010).
[4] Personal communications with Prof. James D. Shoemaker, as of May 2014.
[5] Personal communications with Navigene (partner institute), as of May 2014.

From the aspect of metabolic biochemistry, the body rapidly excretes into the urine unnecessary or toxic compounds that exceed the desired levels to maintain normal bodily function. Those compounds sought in our newborn metabolic screening do not increase dramatically in blood initially, but are excreted in large amounts into urine. Accurate and sensitive GC/MS analyses enable the detection of these compounds in urine specimens. Moreover, collection of urine is easy and avoids invasive collection procedures, such as heel prick.

There are three main differences:
1) Metascreen can detect more than 100 metabolic disorders, much more than any other available newborn screening test;
2) Metascreen uses your newborn’s urine specimen, which means the collection process is non-invasive and painless; and
3) We use a GC/MS screening platform and multiple analytes from more than one biochemical (metabolic) pathway to identify a single metabolic disorder, making Metascreen highly accurate and reliable.

Yes, you can purchase Metascreen, and collect your baby’s urine specimen anytime from now. However, your baby’s urine specimen for Metascreen test is preferably collected as early as possible, preferably before 6 months old. The earlier the test is done, the earlier any metabolic disorder can be detected to enable early disease management and intervention. The goal is to prevent the baby from getting severe, irreversible consequences (such as mental retardation or death) as early as possible.

Collecting Urine

The urine specimen collection process is very simple and straightforward. All you need to do is to soak the Metascreen filter paper provided with your newborn baby’s urine. However, please ensure that you only take the baby’s urine specimen after 48 hours from time of birth and after first feed. Once collected, please air-dry the filter paper prior to putting it back into the collection kit, then call our hotline  1800 419 6200 for pick up.

Your newborn will take some time to metabolize its first feed, which is usually taken within the first 24 hours, and metabolites will then be produced in the urine thereafter. Results may not be accurate if the urine specimen is collected before 48 hours.

If you are unable to collect it immediately after 48 hours from time of birth, you may do so anytime till 6 months old. The earlier the test is done, the earlier any metabolic disorder can be detected to enable early disease management and intervention. The goal is to prevent the baby from getting severe, irreversible consequences (such as mental retardation or death) as early as possible.

Medication will not affect the urine specimen or test results. Due to the highly specific nature of GC/MS technology, our Metascreen platform can differentiate the drug metabolites from the metabolites of the metabolic disorders we are testing.

The collected urine sample needs to be free of stool. If it is stained, please repeat the procedure using the 2nd piece of filter paper provided. After collection, leave the filter paper to air dry before putting it back into the specimen bag.

If the filter paper is contaminated with stool, we cannot process the specimen as the contaminants will mask or interfere with the GC/MS analysis.

The baby’s urine must be collected by provided filter papers. We do not accept any other urine sample other than our filter papers. Please call our hotline 1800 419 6200 to make a request of extra filter paper. Additional charges may apply.

Only 1 urine specimen collection kit is issued to every purchase. Please call our hotline 1800 419 6200 to make a request. Additional charges may apply.

Reviewing screening result

The results will be made available to you 8-10 working days from the date of specimen pick-up. For normal results, you will be notified by email or sms. For abnormal results, we will contact the affected family immediately and the case will be escalated to a paediatrician for urgent attention. Our aim is to ensure that the baby receives treatment as early as possible.

If your baby is tested with abnormal results, we will escalate your case to a paediatrician or a metabolic specialist who will advise you further. A further diagnostic test may be required to confirm the disorder, followed by the treatment.

Scientific literature suggests that up to 1 – 2 percent of newborns are affected by metabolic disorders. Although metabolic disorders are individually rare, but when taken cumulatively, about 1 in every 1,2506 babies is expected to be born with a metabolic disorder.

Reference:
[6] This cumulative incidence rate is based on Meta100+ panel of metabolic disorders.