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.

In Science this week: swapping yeast genes with human orthologs to study conservation of function, and more.

Hong Kong is using DNA phenotyping to shame litterers.

A study appearing in Cell suggests some metastatic castration-resistant prostate cancer patients could benefit from PARP inhibitor therapy.

NIH's Francis Collins writes that scientific advances are poised to help populations all over the world, but more scientists are needed to keep the momentum.