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chromosomal abnormalities

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.

Researchers from UCSD and the Guangdong Women and Children Hospital in China have published the first large clinical study of NIPT for sub-chromosomal alterations. 

The non-invasive test is designed to detect chromosomal abnormalities in the fetus to reduce the number of pregnant women undergoing invasive procedures. 

The CombiSNP Array for Prenatal Diagnosis detects chromosomal imbalances not detected by karyotyping from chorionic villi and amniocentesis samples.

With evidence of significant variation among consent procedures in the NIPT space, and the potential for a lack of awareness about incidental findings, Bianchi recommends the field come together to standardize procedures and education.

Quest has been offering the test since April 13 through its Quest Diagnostics Nichols Institute in San Juan Capistrano, California.

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NPR says the explosion and fire earlier this week at a Russian lab that stores dangerous pathogens revives the question of whether such samples should be kept.

According to Wired, Nebula Genomics is providing a way for people to get their genomes sequenced anonymously.

A 26-year-old woman tells Cosmopolitan about learning her APOE status at a young age.

In Science journals this week: a functional genomic screen uncovers drug combination that increases KRAS inhibitor efficacy in aggressive lung cancer, and more.