chromosomal abnormalities

Noninvasive prenatal screening for trisomies and sub-chromosomal alterations uncovered a fragile site expansion and related deletion present in mothers but not fetuses.

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.


Under a proposed spending bill, the US National Institutes of Health would see an additional $3 billion in funding.

Researchers from the University of Oxford and the University of Sydney sequenced numerous platypus genomes to study their population history.

Robert Redfield, the new pick to lead the US Centers for Disease Control and Prevention, has faced criticism for some of his work.

In Nature this week: sequenced genomes of five additional Neanderthals, and more.