chromosomal abnormalities

The company says Panorama is the only NIPT that can tell whether twins are identical or fraternal, which can impact the clinical management of a pregnancy.

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.

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The US Food and Drug Administration has new guidelines that enable some gene and cell therapies to undergo expedited review, according to the New York Times.

Using gene drives to control invasive species might be too risky, an initial advocate of the approach says.

Researchers have grown tumors in 3D cell cultures to better understand cancer, the Economist reports.

In Science this week: intellectual property experts argue patent battles such as the one over CRISPR are wasteful, and more.