An extremely promising project in NMR analysis is helping deliver efficient, reliable screening of inborn errors in newborn health. It has the potential to generate a push-button, high throughput screening solution offering simultaneous non-targeted and targeted analysis.
Bruker’s participation in projects in Germany (Greifswald University Hospitals) and Turkey (12 hospitals coordinated by Infai GmbH) is helping to establish the screening method. Newborn health status in terms of growth, maturity, common disease recognition, and relativity to parameters not directly visible by NMR and more will be predicted using various statistical models that will have been developed beyond the extensively validated reference models.
In addition, a targeted approach using statistical methods, can quantify and reliably identify a substantial set of compounds.
First Days of Life: Metabolic Profile
The influence of the day of life after birth on the NMR spectra was especially investigated. Dividing the sample set into time periods created a trajectory for the first days of life representing the rapid changes that occur after birth: organ function, jaundice and receding of mother’s influence. Samples projected onto this trajectory immediately determine development against the model pattern, indicating non-standard progress (fast or retarded development) advising further tests.
At Greifswald University Hospital, the screening of 700 newborns resulted in 11.5% outliers. 2 inborn errors were identified showing a higher than expected rate (believed to be 1 out of 1100 babies in Germany).
NMR screening of urine has significant benefits over other methods. It involves non-invasive, straightforward urine sample collection and preparation without derivatization. With full automation offering high throughput, single experiments will deliver both targeted and non-targeted results, granting access to more compounds than plasma analysis. Its high reproducibility means even the smallest concentration variation can be detected.