chromosomal abnormalities

In addition to performing Panorama, MedGenome will provide clinical genomic analysis using Natera's Constellation cloud-based software platform.

A University College London-led team has found that microdeletions and microduplications cannot be reliably detected by non-invasive prenatal testing.

Researchers from UCSD and the Guangdong Women and Children Hospital in China have published the first large clinical study of NIPT for sub-chromosomal alterations. 

The non-invasive test is designed to detect chromosomal abnormalities in the fetus to reduce the number of pregnant women undergoing invasive procedures. 

The CombiSNP Array for Prenatal Diagnosis detects chromosomal imbalances not detected by karyotyping from chorionic villi and amniocentesis samples.

With evidence of significant variation among consent procedures in the NIPT space, and the potential for a lack of awareness about incidental findings, Bianchi recommends the field come together to standardize procedures and education.

Quest has been offering the test since April 13 through its Quest Diagnostics Nichols Institute in San Juan Capistrano, California.

The deal will allow LifeLabs to perform Natera's Panorama NIPT in Canada and follows a prior agreement for LifeLabs to distribute the test in that country.

Three new studies, published online in the New England Journal of Medicine, shed light on how NIPT may be best integrated into clinical care for all pregnant women.

The Swiss firm is paying $260,000 for InKaryo and will assume its $280,000 convertible bond debt obligation.

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A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.

Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.

In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.

A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.