Close Menu

chromosomal abnormalities

A survey of more than 2,400 pregnant women found that their views on testing largely fell into four clusters, shaped by their thoughts on risk, ambiguity, and more.

The firm believes its Parsortix cell separation system, so far used for oncology, can extract rare fetal cells from maternal blood to detect genetic disorders.

The firm also offers an NIPT, codeveloped with Yale, that its CEO said is differentiated by its rapid time-to-result.

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.

Pages

Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.

St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.

St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.

In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.