chromosomal abnormalities | GenomeWeb

chromosomal abnormalities

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.

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.


The Wall Street Journal speaks with patients affected by questionable test results from Theranos.

Researchers link variants in TACR3 to hot flashes during menopause, Live Science reports.

Kuwait says it will alter its law requiring citizens and visitors to provide DNA samples, New Scientist reports.

In Science this week: convergent evolution in bird hemoglobin, and more.