FirstScreen Update- Precision Newborn Screening

By Sr Bronwyn Roussot 12 months ago
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FirstScreen has recently turned 2 ½ years old and although Newborn Screening has been available in South Africa for over 35 years, there has been a marked increase in awareness with the additional marketing and support from Next Biosciences.

The program is constantly gaining momentum and in January this year, the new Precision Newborn Screening Testing Methodology was introduced, bringing positive changes to the testing time frame as well as the test methodology.

By launching Precision Newborn Screening in January 2018 the ultimate goal was to improve the test as stated by Prof Chris Vorster, Director at The Centre for Human Metabolomics from North West University, below:

“The transition to Precision Newborn screening in collaboration with Mayo Clinic in the US is advantageous to our stakeholders and clients. Some of the advantages which will be realised over the next two years are:

  • Allowance for sample collection as early as 24 hours after birth, this is beneficial to a large number of clients as the babies will be screened prior to discharge from hospital.
  • A decrease in the rate of requests for repeat sampling to near 0%. The current incidence of request for repeats is a great burden to all involved, even to those with a normal screen, since the cost of repeat testing has to be incorporated into the total cost of the service.
  • A false positive rate that is substantially below 1%. Currently the cost of false positives is a great barrier to the expansion of the programme. Once this cost becomes negligible, the threshold for implementing additional testing, is much easier to attain. This could result in substantial expansion of the programme.
  • Meticulous planning of reflex- and confirmatory testing that will ensure timeous and accurate intervention. In addition, this will create an opportunity to offer the complete service at a once off fee.”

Stats have been compiled, comparing test results from last 6 months of 2017 to the first 6 months of 2018 to determine the impact of the new Precision Newborn Screening Testing Methodology on the false positive rate.


July – December 2017

  • 1568 tests were done, 177 abnormal results were received. This gave a False Positive Rate of 11%, over the 6 months. (Which was in keeping with the anticipated False Positive Rate at the time).
  • 117 repeat Newborn Screening (dry spot card) tests were done. 98 repeat tests came back as normal.
  • 18 results were still abnormal:
  • 11 tests recommended additional serum and urine tests to be done and sent to the Potchefstroom Laboratory for Inborn Errors of Metabolism (PLIEM).
  • 7 clients were referred for a 3rd dry blood spot card test:
    • 5 results were normal
    • 2 clients chose not to do the 3rd test, therefore final outcome is unknown.

January – June 2018 

  • 1936 tests were done and 123 abnormal results were received. The False Positive Rate during these 6 months of testing was 6.3%. This is a clear indication that the Precision Testing is more accurate and is clearly reducing the False Positive Rate.
  • 78 repeat tests done. 66 results came back normal (6 results still outstanding).
  • 5 abnormal results:
  • 2 results recommended additional serum and urine tests to be done and were sent to *PLIEM for testing (Potchefstroom Laboratory for Inborn Errors of Metabolism)
  • 1 baby passed away (not metabolic disease related)
  • 2 Metabolic diseases diagnosed. Galactosaemia and Biotinidase Deficiency, both babies are doing well on prescribed treatment.

*PLIEM results are not sent to FirstScreen, these results are sent directly to the Paediatrician, thus it is difficult to give accurate feedback on the outcome of these tests.

We are looking forward to this rate decreasing even further.

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 Sr Bronwyn Roussot

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