chromosomal abnormalities

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.

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.

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Direct-to-consumer genetic testing companies have offered to test families separated at the southern US border, but that raises ethical issues.

CNBC reports that confirming a positive result from 23andMe's BRCA health report can be expensive.

The New York Times reports on a project to develop a tree DNA database to uncover illegal logging.

In PLOS this week: links between gut microbiome and colorectal cancer mutations, targeted sequencing uncovers genetic susceptibilities to epilepsy in Koreans, and more.