NIPT Developers Consider Sub-Chromosomal Alterations | GenomeWeb

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.

University of Wisconsin researchers uncover a mutation linked to Mauriac syndrome, which affects some children with type 1 diabetes.

Theranos has hired executives to oversee compliance and regulatory issues, the Wall Street Journal reports.

Chinese researchers to embark on a trial using a CRISPR/Cas9-based immunotherapy next month, Nature News reports.

In Science this week: new chromatin imaging approach, and more.