chromosomal abnormalities

The recommendation calls for NIPT to be initially offered to women deemed at high risk for trisomy 21, 13, or 18 after the initial screening test.

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.

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Thermo Fisher Scientific says it will no longer sell machines in China's Xinjiang region, according to the Wall Street Journal.

New Scientist reports that 20 percent of human and yeast proteins are uncharacterized.

The University of Zurich's Ruedi Aebersold and his colleagues analyzed a dozen HeLa cell lines to find differences in gene expression, protein levels, and more.

In Nature this week: protein-coding variants associated with body-fat distribution, and more.