A re-analysis of non-invasive prenatal testing data from CARE found fewer false-positive cases caused by maternal copy number variants and other factors.
Based on data from more than 6,000 clinical cases, the investigators from Switzerland advocated for an expansion of NIPT to cover additional alterations and associated phenotypes.
The firm is using Natera's Constellation software platform, which provides cloud-based access to bioinformatics algorithms for clinical genomics applications.
St. George's University Hospitals NHS Foundation Trust, which has been offering NIPT since last year, plans to double its capacity by the third quarter.
Low-coverage, whole-genome sequencing had a diagnostic yield of up to 53 percent in prenatal and postnatal samples referred for chromosomal analyses.
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.
Only about 5 to 6 percent of women in China, mostly in urban areas, currently obtain NIPT, but their number is expected to increase quickly in coming years.
Thermo will invest £5 million in Premaitha as a secured loan facility, of which the firm will receive £3 million initially and the remainder as milestone payments.
Maverix Biomics and Diagnomics have received CLIA validation for their pre-natal molecular diagnostic on a next-generation sequencing platform.
Prices in Germany for noninvasive prenatal testing have plummeted over the last year, driven by competition and process improvements.
The Guardian reports that visa costs could prevent scientists and others from coming to the UK.
The Trump Administration is reconsidering its plan to issue an executive order to require federally funded research to be freely available upon publication, Times Higher Education reports.
Nature News says some preprint repositories may close down due to a lack of funds to cover costs.
In Nature this week: framework for analyzing cancer mutational signatures, treatment resistance in small cell lung cancer followed by increased intratumoral heterogeneity, and more.