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To Find a Reason

A Columbia University doctor is pursuing the use of nanopore sequencing to quickly uncover whether patients' recurrent miscarriages are due to chromosomal abnormalities, NBC News reports.

Miscarriages are fairly common, affecting about a quarter of pregnancies, but some women experience recurrent miscarriages of three or more, it adds, noting that genetic abnormalities are thought to account for about half of miscarriages, but patients often don't learn why they are losing pregnancies. And when genetic testing is conducted on fetal tissue, it can cost thousands of dollars and take weeks to get results, NBC News adds.

Zev Williams, director of the Columbia University Fertility Center, tells it that he is developing a cheaper and faster test using an Oxford Nanopore sequencer to analyze either fetal or placental tissue. He adds that he hope that his test — which NBC News says he has been developing for a number of years and on which has submitted data to the New York State health department — will give patients answers or spur them to examine potential non-genetic causes of miscarriage.

The Scan

Quality Improvement Study Compares Molecular Tumor Boards, Central Consensus Recommendations

With 50 simulated cancer cases, researchers in JAMA Network Open compared molecular tumor board recommendations with central consensus plans at a dozen centers in Japan.

Lupus Heterogeneity Highlighted With Single-Cell Transcriptomes

Using single-cell RNA sequencing, researchers in Nature Communications tracked down immune and non-immune cell differences between discoid lupus erythematosus and systemic lupus erythematosus.

Rare Disease Clues Gleaned From Mobile Element Insertions in Exome Sequences

With an approach called MELT, researchers in the European Journal of Human Genetics uncovered mobile element insertions in exomes from 3,232 individuals with or without developmental or neurological abnormalities.

Team Tracks Down Potential Blood Plasma Markers Linked to Heart Failure in Atrial Fibrillation Patients

Researchers in BMC Genomics found 10 differentially expressed proteins or metabolites that marked atrial fibrillation with heart failure cases.