Sequencing of maternal plasma to detect fetal chromosomal aneuploidies is currently being offered by four US-based companies — Sequenom, Verinata Health, Ariosa Diagnostics, and Natera — and researchers now think that the technique can be expanded to detect sub-chromosomal deletions and duplications in the fetal genome as well.

Such aberrations are less frequent than fetal aneuploidy, but can cause conditions like DiGeorge syndrome, characterized by congenital heart defects, learning deficiencies, immune problems, abnormal facial features, and other problems.

Get the full story with
GenomeWeb Premium

Only $95 for the
first 90 days*

A trial upgrade to GenomeWeb Premium gives you full site access, interest-based email alerts, access to archives, and more. Never miss another important industry story.

Try GenomeWeb Premium now.

Already a GenomeWeb Premium member? Login Now.
Or, See if your institution qualifies for premium access.

*Before your trial expires, we’ll put together a custom quote with your long-term premium options.

Not ready for premium?

Browse our free articles
You can still register for access to our free content.

A report from MIT identifies areas of scientific research where declining research support is hindering needed advances.

In PLOS this week: phylogenetic study of hepatitis E viruses in Swedish moose, recombination sites in the honeybee genome, and more.

Differences in DNA methylation could be used to distinguish between DNA samples obtained from identical twins, researchers say.

A retrovirus that's been integrated into the human genome appears to have a role in embryonic development, researchers report.

Apr
29
Sponsored by
Covance

This online seminar will review case studies demonstrating the clinical utility of CTCs and cfDNA to define and characterize a variety of dynamic genomic changes throughout the course of cancer detection and treatment.