Point-of-birth system and instrument, biochemical cartridge, and methods for newborn screening

Inventors

Pamula, Vamsee • Srinivasan, Vijay • Bort, Donovan

Assignees

Baebies Inc

Abstract

A point-of-birth system and instrument, biochemical cartridge, and methods for newborn screening is disclosed. Namely, a point-of-birth system is provided that includes a point-of-birth instrument for receiving and processing a biochemical cartridge for performing newborn screening. Further, a portable smart device, such as a smartphone or tablet, is in communication with point-of-birth instrument, wherein the smart device may include a newborn screening (NBS) mobile app. In one example, the point-of-birth system and point-of-birth instrument support newborn biological screening only. However, in another example, the point-of-birth system and point-of-birth instrument support both newborn biological screening and newborn physiological screening.

Core Innovation

The invention relates to a portable point-of-birth newborn screening system in which a point-of-birth instrument processes a disposable biochemical cartridge. A smart display runs an NBS mobile app for user interaction, including opening orders, scanning identifiers, and viewing and distributing results. The system supports newborn biological screening using multiplexed testing with multiple analytes/markers and multiple biochemical test types, using optical detection such as a fluorimeter or spectrometer.

The system optionally supports newborn physiological screening including pulse oximetry and hearing screening, with hearing screening using ABR and/or OAEs. Identification and association of cartridge/sample information are performed using barcode-based identification, including operator ID, cartridge ID, and sample ID. The disposable biochemical cartridge architecture includes bottom and top substrates separated by a gap to form an assay chamber, with a cover positioned adjacent the top substrate.

The cartridge includes a sample input well with a loading port and a well cap assembly for opening and closing the loading port. The sample input well is implemented as a horizontal reservoir module and the cartridge further comprises a cover gasket, a horizontal reservoir module mounting plate, and mounting posts for holding the horizontal reservoir module. Sealing of fluid inside the horizontal reservoir module is provided by a foil strip, which is wound off by a take-up reel, with a reel engaging feature secured to the top substrate and a reservoir module capture feature.

Cartridge variants include configurations supporting digital microfluidics, including an electrode configuration and electrical I/O contacts for electrowetting, as well as non-digital flow-cell configurations. Additional cartridge structure includes an optics interface region aligned with the instrument. The disclosed HRM/foil deployment sequence and the application workflow include monitoring status and handling error conditions such as insufficient sample quantity.

Claims Coverage

The provided independent claim defines a cartridge architecture with bottom and top substrates separated by a gap, a sample input well with a loading port and well cap assembly, and a horizontal reservoir module sealed by a foil strip that is wound by a take-up reel. The inventive features are refined by dependent claim limitations that specify newborn testing fluids, substrate and gap structure, horizontal reservoir module angular constraints, and support for digital microfluidics.

The coverage centers on a disposable newborn screening biochemical cartridge that integrates a horizontal reservoir module sealed by a foil strip with automated foil take-up, while using bottom/top substrate spacing with a gap as an assay chamber. The refinements include newborn testing fluids, a printed circuit board bottom substrate, defined reservoir orientation, and support for digital microfluidics.

Stated Advantages

Documented Applications