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In Print: Last Week's Microarray Papers of Note: Jun 10, 2014


Association of copy number variants with specific ultrasonographically detected fetal anomalies.
Obstet Gynecol. 2014 Jun 4. [Epub ahead of print]
Donnelly J, et al.

The authors set out to evaluate the association of other-than-common benign copy number variants with specific fetal abnormalities detected by ultrasonogram. Fetuses with anomalies in more than one system had a 13 percent frequency of other-than-common benign copy number variants, which was significantly higher than the frequency in fetuses without anomalies. Specific organ systems in which isolated anomalies were nominally significantly associated with other-than-common benign copy number variants were the renal and cardiac systems.

Diagnostic accuracy of the BACs-on-Beads assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series.
BJOG. 2014 Jun 3. [Epub ahead of print]
Choy K, et al.

The authors evaluated the diagnostic performance of PerkinElmer's BACs-on-Beads assay for prenatal detection of chromosomal abnormalities, comparing its performance on samples previously tested by quantitative fluorescence PCR and karyotyping. They determined the BACs-on-Beads assay to be similar to karyotyping and QF-PCR in detecting trisomy 13, trisomy 18, trisomy 21, and sex chromosomal aneuploidies, and superior to QF-PCR in detecting major structural abnormalities and mosaicism involving chromosomal abnormalities other than the common aneuploidies.

Site-specific clinical evaluation of the Luminex xTAG Gastrointestinal Pathogen Panel for the detection of infectious gastroenteritis in fecal specimens.
J Clin Microbiol. 2014 Jun 4. pii: JCM.01393-14.
Patel A, et al.

The authors evaluated the clinical performance of the Luminex xTAG Gastrointestinal Pathogen in vitro diagnostic assay between clinical and public health laboratories. They reported that the assay improved turnaround time, consolidated laboratory workflow, and simplified stool-culture practices, reducing overall cost and number of specimens processed.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.