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Meta-Analysis
. 2020 Oct;182(10):2297-2316.
doi: 10.1002/ajmg.a.61787. Epub 2020 Aug 17.

Birth prevalence of achondroplasia: A systematic literature review and meta-analysis

Pamela K Foreman  1 , Femke van Kessel  2 , Rosa van Hoorn  2 , Judith van den Bosch  2 , Renée Shediac  1 , Sarah Landis  3
Affiliations
Meta-Analysis

Birth prevalence of achondroplasia: A systematic literature review and meta-analysis

Pamela K Foreman et al. Am J Med Genet A. 2020 Oct.

Abstract

Achondroplasia is a genetic disorder that results in disproportionate short stature. The true prevalence of achondroplasia is unknown as estimates vary widely. This systematic literature review and meta-analysis was conducted to better estimate worldwide achondroplasia birth prevalence. PubMed, Embase, Scielo, and Google Scholar were searched, complemented by manual searching, for peer-reviewed articles published between 1950 and 2019. Eligible articles were identified by two independent researchers using predefined selection criteria. Birth prevalence estimates were extracted for analysis, and the quality of evidence was assessed. A meta-analysis using a quality effects approach based on the inverse variance fixed effect model was conducted. The search identified 955 unique articles, of which 52 were eligible and included. Based on the meta-analysis, the worldwide birth prevalence of achondroplasia was estimated to be 4.6 per 100,000. Substantial regional variation was observed with a considerably higher birth prevalence reported in North Africa and the Middle East compared to other regions, particularly Europe and the Americas. Higher birth prevalence was also reported in specialized care settings. Significant heterogeneity (Higgins I2 of 84.3) was present and some indication of publication bias was detected, based on visual asymmetry of the Doi plot with a Furuya-Kanamori index of 2.73. Analysis of pooled data from the current literature yields a worldwide achondroplasia birth prevalence of approximately 4.6 per 100,000, with considerable regional variation. Careful interpretation of these findings is advised as included studies are of broadly varying methodological quality.

Keywords: achondroplasia; birth prevalence; epidemiology; meta-analysis; systematic review.

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Conflict of interest statement

The review team members P. K. F., S. L., and R. S. are employed by BioMarin Pharmaceutical, Inc.

Figures

FIGURE 1
FIGURE 1
Flow chart of selection process (Moher, Liberati, Tetzlaff, & Altman, 2009). † For example, Modeling study, no original data, no English abstract [Color figure can be viewed at wileyonlinelibrary.com]
FIGURE 2
FIGURE 2
Quality assessment of included estimates (N = 90). For numerator and denominator a moderate score was not an option (Table 1) [Color figure can be viewed at wileyonlinelibrary.com]
FIGURE 3
FIGURE 3
Forest plot of achondroplasia pooled birth prevalence estimates. Prevalence was estimated using the quality effects model
FIGURE 4
FIGURE 4
Doi plot to evaluate publication bias
See this image and copyright information in PMC

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