Researchers at the University of Sussex, in collaboration with scientists from different institutes worldwide, have ...

For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...

Non-invasive prenatal testing (NIPT) has recently expanded to include sex chromosomal aneuploidies (SCAs) and copy number variations (CNVs), as well as the commonly screened trisomies (T21, T18, and ...

Separate studies led by scientists at Dartmouth Hitchcock Medical Center (DMHC) and Queens University offer some clarity about the hidden causes of recurrent pregnancy loss. Data from both studies is ...

Molecular testing, including chromosomal microarray analysis, distinguishes between aggressive and indolent kidney cancer subtypes, aiding in accurate diagnosis. Accurate diagnosis is critical for ...

To assess the detection rate of exome sequencing (ES) in fetuses diagnosed as skeletal abnormalities (SKA) with normal karyotype or chromosomal microarray analysis (CMA) results. We conducted ...

Of the final sample, 31% of patients received at least one genetic test overall, but only 11% received concordant testing and at least one other test. Examining rates of genetic testing for autism ...

Recent technological advances have led to the expansion of testing options for newborns with suspected rare genetic conditions, particularly in high-income healthcare settings. This article summarises ...