Feasibility for non-invasive prenatal fetal blood group and platelet genotyping by massively parallel sequencing: A single test system for multiple atypical red cell, platelet and quality control markers.

Non-invasive prenatal tests (NIPT) to predict fetal red cell or platelet antigen status for alloimmunised women are provided for select antigens. This study reports on massively parallel sequencing (MPS) using a red cell and platelet probe panel targeting multiple nucleotide variants, plus individual identification single nucleotide polymorphisms (IISNPs). Maternal blood samples were provided from 33 alloimmunised cases, including seven with two red cell antibodies. Cell-free and genomic DNA was sequenced using targeted MPS and bioinformatically analysed using low-frequency variant detection. The resulting maternal genomic DNA allele frequency was subtracted from the cell-free DNA counterpart. Outcomes were matched against validated phenotyping/genotyping methods, where available. A 2.5% subtractive allele frequency threshold was set after comparing MPS predictions for K, RhC/c, RhE/e and Fya /Fyb against expected outcomes. This threshold was used for subsequent predictions, including HPA-15a, Jka /Jkb , Kpa /Kpb and Lua . MPS outcomes were 97.2% concordant with validated methods; one RhC case was discordantly negative and lacked IISNPs. IISNPs were informative for 30/33 cases as controls. NIPT MPS is feasible for fetal blood group genotyping and covers multiple blood groups and control targets in a single test. Noting caution for the Rh system, this has the potential to provide a personalised service for alloimmunised women.

Self-derivation through memory integration: A model for accumulation of semantic knowledge.

Semantic knowledge accumulates through explicit means and productive processes (e.g., analogy). These means work in concert when information explicitly acquired in separate episodes is integrated, and the integrated representation is used to self-derive new knowledge. We tested whether (a) self-derivation through memory integration extends beyond general information to science content, (b) self-derived information is retained, and (c) details of explicit learning episodes are retained. Testing was in second-grade classrooms (children 7-9 years). Children self-derived new knowledge; performance did not differ for general knowledge (Experiment 1) and science curriculum facts (Experiment 2). In Experiment 1, children retained self-derived knowledge over one week. In Experiment 2, children remembered details of the learning episodes that gave rise to self-derived knowledge; performance suggests that memory integration is dependent on explicit prompts. The findings support nomination of self-derivation through memory integration as a model for accumulation of semantic knowledge and inform the processes involved.