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All-in-One Whole-Exome Sequencing Strategy for Fetal Anomaly Diagnosis

A new strategy that combines various sequencing data analyses for the prenatal diagnosis of fetuses with ultrasound abnormalities with no apparent genetic cause is reported in Prenatal Diagnosis this week. Currently, fetuses with ultrasound anomalies for which no genetic cause is identified via PCR or microarray analysis may then undergo exome analysis, though that is largely limited to single nucleotide variant (SNV) analysis. This approach, though, leads to a delay in reporting time. But simultaneously performing microarray and exome sequencing leads to additional costs. A team led by scientists from Radboud University has instead developed an all-in-one approach that simultaneously analyzes SNVs, copy number variants, and copy-number-neutral absence-of-heterozygosity from one set of whole-exome sequencing data to identify the most commonly occurring aneuploidies. In a one-year evaluation of the strategy in 415 prenatal samples, the research group shows that it is efficient in terms of reporting time, with genetic analyses being completed within two weeks of sampling, which also improved genetic counseling time. The approach is also cost-effective, they write, "as additional tests such as microarray and contamination tests on both maternal and fetal DNA are avoided.

The Scan

Open Pediatric Brain Tumor Atlas Team Introduces Genomic Data Collection, Analytical Tools

A study in Cell Genomics outlines open-source methods being used to analyze and translate whole-genome, exome, and RNA sequence data from the Pediatric Brain Tumor Atlas.

Neurological Outcomes Linked to Innate Immune Features After Cardiac Arrest

Researchers reporting in Med dig into immune features found a few hours after cardiac arrest that correspond with neurological outcomes.

Mouse Study Finds Circadian Rhythm-Related Gene Expression Changes Linked to Sleep Apnea

A paper in PLOS Biology reveals tissue-specific circadian rhythm and gene expression patterns in an intermittent hypoxia-based mouse model of obstructive sleep apnea.

Polygenic Risk Score to Predict Preeclampsia, Gestational Hypertension in Pregnant Women

Researchers in Nature Medicine provide new mechanistic insights into the development of hypertensive disorders of pregnancy, which may help develop therapeutics.