A new study shows that combining size-based and count-based analysis helps determine whether a copy number aberration originates in the mother, fetus, or both.
The researchers will look for disease-causing variants in individuals with congenital heart disease who also have a chromosomal deletion syndrome.
Several academic and commercial groups are developing clinical cell-based noninvasive prenatal tests, which could eventually compete with current cell-free NIPTs.
The company's NGS-based PGS test will initially join, and eventually replace, its current array-based CombiPGS option, which it launched in 2014.
The firm found that for sub-chromosomal copy number variants, the test had a sensitivity of 97.7 percent and a specificity of 99.9 percent.
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.
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 apple has traveled westward and eastward along the Silk Road, according to a new genetic analysis.
In Nature this week: GWAS data used to reposition drugs for psychiatric use, and more.
Genetic disease risk information doesn't always spur people to make healthy lifestyle changes, according to the Associated Press.
A University of California, San Diego-led team has used liquid biopsies to uncover possible treatments for patients with cancers of unknown primary.