Short stature? Call the geneticist

Next generation sequencing technologies (NGS) such as exome sequencing (ES) and chromosomal microarray analysis (CMA) didn’t exist when Archivist was at medical school. There are now several well recognised genetic factors contributing to short stature including traditional chromosomal abnormalities but also copy number variations (CNVs), and single-nucleotide variants. How do these new tools help in making a diagnosis? What is the yield? Currently it is unclear. Li Q et al [JAMA Pediatr 2023;177:1149–57. doi:10.1001/jamapediatrics.2023.3566] have completed a systematic review and metanalysis to examine the value of CMA and ES. They have interrogated 5222 studies and after screening of the abstracts and review of identified papers, 20 were eventually included in the study (10 CMA, 6 ES and four both). Using two independent investigators to extract data from each study, they then went on to a narrative review and were able to use meta-analysis to obtain the diagnostic yield of...

Source: Archives of Disease in Childhood - December 14, 2023 Category: Pediatrics Tags: Miscellanea Source Type: research