Abstract: A prenatal screening system includes a wet-laboratory arrangement and a data processing arrangement to exchange instructions and data with the wet-laboratory arrangement. The data processing arrangement includes a database arrangement storing genetic information accessible to one or more algorithms executable on the data processing arrangement. The wet-laboratory arrangement collects one or more maternal blood samples from a pregnant mother. The wet-laboratory arrangement isolates free fetal DNA fragments present in cell-free DNA derived from plasma of the one or more maternal blood samples. The isolation utilizes baits based upon coordinates of cell-free fetal DNA fragment specific end-points, and the data processing arrangement analyses the isolated free fetal DNA and compares with one or more DNA templates stored in the data processing arrangement for determining an occurrence of one or more biological characteristics of fetal DNA present in the one or more maternal blood samples.

Abstract: A kit for use in an apparatus for a genetic screening, where the kit when in operation, performs a wet-lab assay. The assay includes processing genetic material that is derived from one or more cell exomes, and detecting single nucleotide variants (SNVs), indels and copy number variations (CNVs) in genetic DNA readout from genetic material. The kit is executable as single assay that processes the genetic material. The kit includes a software product that is executable on a computing hardware to cause the computing hardware to invoke algorithms to process the genetic DNA readout by comparing portions of the genetic DNA readout against DNA sequence transcripts, to determine a probability of occurrence of the DNA sequence transcripts in the DNA readout data. The algorithms are used to detect both SNVs and CNVs concurrently in the genetic DNA readout from the genetic material and annotate clinically relevant CNVs.

Abstract: A system for managing a CNV reference panel is disclosed, wherein the system includes a database arrangement configured to store a plurality of sample genomic DNA sequences and metadata associated with each of plurality of sample genomic DNA sequences. The system further includes a computing arrangement communicatively coupled to the database arrangement. The computing arrangement is configured to render a user interface to receive a target genomic DNA sequence along with interpretation request for calling CNVs in target genomic DNA sequence. The computing arrangement compares the plurality of characteristic attributes in the interpretation request with the metadata associated with each of plurality of sample genomic DNA sequences. Furthermore, the computing arrangement identifies a set of sample genomic DNA sequences as a reference panel, based on the comparison. Moreover, the computing arrangement utilise the reference panel for calling CNVs in the target genomic DNA sequence.

Abstract: A prenatal screening system including a wet-laboratory arrangement and a data processing arrangement to exchange instructions and data with the wet-laboratory arrangement. The data processing arrangement includes a database arrangement in which is stored genetic information accessible to one or more algorithms executable on the data processing arrangement. The wet-laboratory arrangement collects one or more maternal blood samples from a pregnant mother. The wet-laboratory arrangement isolates free fetal DNA (ffDNA) fragments present in cell-free DNA (cfDNA) derived from plasma of the one or more maternal blood samples.