Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India

Singh, Kanika; Puri, Ratna Dua; Bijarnia‐Mahay, Sunita; Lall, Meena; Verma, Jyotsna; Saxena, Renu; Kohli, Sudha; Thomas, Daniel; Saviour, Pushpa; Verma, Ishwar C.

doi:10.1007/s13312-022-2537-y

Cited by 2 publications

(3 citation statements)

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“…Our systematic search identified a total of 5222 records with 24 being deemed eligible and included in the systematic review (eTable 3 in Supplement 1). Of these, 20 studies were included in the meta-analysis.…”

Section: Resultsmentioning

confidence: 99%

“…In the meta-analysis of ES, 1 article was excluded due to the subset of patients who used ES for molecular diagnosis being less than 10. However, this article was included in the meta-analysis of CMA.…”

Section: Resultsmentioning

confidence: 99%

“…We were unable to obtain the number of positive diagnoses without counting the pathogenic CNVs in 1 cohort, although we had not intended to include CNV analysis results from ES due to the heterogeneity of the application of this technique across studies. Moreover, 1 article did not clearly state how pathogenic variation was defined . We tried to contact the authors but did not receive a response until the article was submitted.…”

Section: Methodsmentioning

confidence: 99%

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Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature

Li,

Chen,

Wang

et al. 2023

JAMA Pediatr

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ImportanceCurrently, the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies reporting the widespread use of ES and CMA, a definitive diagnostic yield has not been established.ObjectiveTo investigate the diagnostic yield of ES and CMA in short stature.Data SourcesA systematic literature search was conducted using relevant keywords in 3 databases (PubMed, Embase, and Web of Science) in February 2023.Study SelectionEligible studies for meta-analysis were those that had at least 10 participants with short stature who were diagnosed using either ES or CMA and the number of diagnosed patients was reported. Of 5222 identified studies, 20 were eventually included in the study.Data Extraction and SynthesisTwo independent investigators extracted relevant information from each study, which was then synthesized using proportional meta-analysis to obtain the overall diagnostic yield of ES and CMA.Main Outcomes and MeasuresThe primary outcome measure was to determine the overall diagnostic yield of ES and CMA. A subgroup meta-analysis was also performed to assess if the diagnostic yield varied depending on whether ES was used as a first-tier or last-resort test. Additionally, a meta-regression was carried out to investigate how the diagnostic yield varied over time.ResultsTwenty studies were included, comprising 1350 patients with short stature who underwent ES and 1070 patients who completed CMA. The overall diagnostic yield of ES among the cohorts and CMA among the cohorts was found to be 27.1% (95% CI, 18.1%-37.2%) and 13.6% (95% CI, 9.2%-18.7%), respectively. No statistically significant difference was observed between the first-tier (27.8%; 95% CI, 15.7%-41.8%) and last-resort groups (25.6%; 95% CI, 13.6%-39.6%) (P = .83) or in the percentage of positively diagnosed patients over time. No statistically significant difference was observed between the first-tier (27.8%; 95% CI, 15.7%-41.8%) and last-resort groups (25.6%; 95% CI, 13.6%-39.6%) (P = .83) or in the percentage of positively diagnosed patients over time.Conclusion and RelevanceThis systematic review and meta-analysis provides high-level evidence supporting the diagnostic efficacy of ES and CMA in patients with short stature. The findings serve as a solid reference for clinicians when making informed decisions about recommending these genetic tests.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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