Medically reviewed by Daniel Combs, MD Clinical signs raise suspicion for Prader-Willi syndrome (PWS), but genetic testing ...

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 ...

JA Rosenfeld is an employee of Signature Genomic Laboratories, a subsidiary of PerkinElmer, Inc. The authors have no other relevant affiliations or financial involvement with any organization or ...

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 ...

Introduction: The genetic basis of congenital heart disease (CHD) is incompletely understood. Approximately 10-20% of infants with CHD have abnormal chromosome microarray (CMA) results, however, the ...

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. The current study explored the role of genetic ...

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 ...

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