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Selective Screening by NMR for Newborns

Bruker IVDr for NewbornScreening (B.I.QUANT-UR ne)

Urine selective screening by NMR combinestargeted analysis of metabolites including InbornError of Metabolism and other disease markersand non-targeted classification against healthynewborn models. Non-targeted screening enablesthe detection of all NMR-visible deviations fromnormal references, whether known or unknown.Figure 1 illustrates the identification of deviationsfrom normality. All NMR spectra included in thereference model are combined in a so-calledquantile plot, shown as a color band over the NMRspectrum. A spectrum from a new sample can beoverlaid and tested for consistency with the model,i.e. all resonances will fit into the envelope definedby the model. This testing can be performedautomatically in a uni- or multivariate fashion.The sample spectrum represents a canavandisease case. In the expansion of the overallNMR spectrum, signals of N-Acetylaspartic acidare clearly visible. As part of the B.I.QUANT-URpanel, N-Acetylaspartic acid can be identified andquantified automatically; however statistics wouldalso reveal the existence of previously unseendeviations with the same certainty.

Influence of Metadata

Beside the use of normal models, it is alsopossible to investigate the influence of metadataon the NMR spectra. The influence of the dayof life after birth on the NMR spectra has beenespecially investigated and the evolution ofMetabolic Profile during the first days of lifecan be shown (figure 2). When new samplesare projected onto this trajectory, it is possibleto determine whether the babies' developmentfollows the model pattern. It is clear that sampleB corresponds to a baby who has developedfurther than usual. Sample A is interestingbecause it comes from day 5 but falls into thegroup of day 1 and 2. This could indicate a delay indevelopment and therefore advise further testing,as the delay could be the first sign of an inbornerror not yet manifested by the usual biomarkers.

Fig 11
Figure 1: Projection of the urine spectrum of a inborn error sample into the German normal model.
Figure 2: Trajectory of the first days of life as obtained from the NMR analysis of urine, containing 2 new samples projected onto the trajectory. The color of the stars represents the age group in which the
babies should be.

Support for Interpretation in Context of IEM

Bruker IVDr Inborn Error of MetabolismPanel ( B.I.IEM Panel)

The Bruker IVDr Inborn Errors of MetabolismPanel (B.I.IEM Panel), developed for researchuse only (RUO), automatically produces valuablesupport for the diagnostic interpretation ofB.I.QUANT-UR results by using the databaseMetagene. Healthcare professionals can usethe information in the context of diagnosis andmanagement of inborn errors of metabolismin newborns, children and adults. The NMRmetabolic findings of B.I.QUANT-UR can becompared against a dedicated Bruker version ofMetagene's existing database which containsalmost 1000 diseases and differential diagnoses,providing clinicians with a wealth of data tosupport diagnoses. Interactively, it is possible toadd clinical relevant information which could help for the ranking of potential diagnoses. This panel
approach not only supports diagnostics of inborn errors of metabolism but also research in the Pediatrics field.