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prenatal testing

A preliminary analysis lends some support to covering NIPS for pregnancies beyond high-risk, and some payors have expanded coverage.  

 

According to simulations and a study of large families presented at ASHG this week, current polygenic scores cannot accurately predict complex human traits.

The company published a quality assurance study for the Panorama test last month and is wrapping up the SMART study, which has enrolled 20,000 women.

For Everyone

In an opinion piece at the Nation, Sarah Lawrence College's Laura Hercher argues that everyone should be able to access prenatal genetic testing.

The acquisition will allow the firms to provide annotated biospecimens, as well as sequencing, bioinformatics, and lab services to hospitals and clinicians.

The companies will combine their respective technologies to develop mass spectrometry-based proteomics assays for adverse pregnancy outcomes.

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.

Two new studies found that prenatal whole-exome sequencing could uncover clinically significant variants in an additional 8 to 12 percent of fetuses with structural anomalies.

What's in Store?

The Asbury Park Press reports on the startup Genomic Prediction's test to determine an embryo's risk of disease.

A randomized clinical trial from France revealed similar miscarriage rates in women who had cell-free DNA screening for trisomy 21 prior to invasive testing.

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Forensic genetic firm Verogen has bought the genetic genealogy site GEDmatch.

Researchers have 3D-printed plastic bunnies that encase the information needed to make more such bunnies in DNA, according to Discover magazine.

Dan Rather, the former CBS Evening News anchor and executive producer of a new documentary, writes at the Guardian that everyone needs to know about CRISPR.

In PNAS this week: analysis of FOXA1 upregulation in ER-positive breast cancer, gene editing to correct recessive dystrophic epidermolysis bullosa, and more.