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<p>Parental consanguinity can increase the risk of selected congenital anomalies, but its population impact depends on local marriage patterns, ancestry structure, and access to reproductive and preventive health services.&#xa0;We compare the prevalence of congenital anomalies in Coro (Falcón State, Venezuela) with other ECLAMC hospitals and to quantify the contribution of parental consanguinity and reproductive/sociodemographic factors to anomalies with excess prevalence in Coro.&#xa0;Hospital-based surveillance data from ECLAMC (2002–2024) were analyzed. Prevalence (per 10,000 births) and 95% confidence intervals were estimated for 40 anomalies among 108,380 births in Coro and 2,177,774 births in other participating hospitals. Anomalies with higher prevalence in Coro were examined using case–control analyses to estimate odds ratios, attributable risk among the exposed, and population attributable risk. To address multiple testing across 40 anomalies, P-values were additionally evaluated using the Benjamini–Hochberg false discovery rate (q = 0.05).&#xa0;Three anomalies showed higher prevalence in Coro: spina bifida (13.7 vs. 9.7 per 10,000), hypospadias (12.0 vs. 8.1), and postaxial polydactyly (30.5 vs. 15.8) (<i>p</i> &lt; 0.01). Parental consanguinity was associated with increased risk of spina bifida and postaxial polydactyly in both settings, with a larger population attributable risk in Coro due to higher exposure frequency. In Coro, multigravidity, reduced prenatal care, and a history of fetal losses were also associated with postaxial polydactyly.&#xa0;Regional differences in congenital anomaly prevalence within ECLAMC partly reflect variation in parental consanguinity and reproductive factors. These findings support the integration of community genetics actions (targeted counseling, risk communication) with congenital anomaly surveillance in higher-consanguinity settings.</p>

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Parental consanguinity and the prevalence of congenital anomalies in Venezuela: a comparative analysis with the Latin American Collaborative Study of Congenital Malformations-ECLAMC

  • 期刊论文

  • 发表日期：

    2026年5月30日

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  • Braulio Jatar Senior,
  • Julián Negri,
  • Jorge López Camelo

摘要

Parental consanguinity can increase the risk of selected congenital anomalies, but its population impact depends on local marriage patterns, ancestry structure, and access to reproductive and preventive health services. We compare the prevalence of congenital anomalies in Coro (Falcón State, Venezuela) with other ECLAMC hospitals and to quantify the contribution of parental consanguinity and reproductive/sociodemographic factors to anomalies with excess prevalence in Coro. Hospital-based surveillance data from ECLAMC (2002–2024) were analyzed. Prevalence (per 10,000 births) and 95% confidence intervals were estimated for 40 anomalies among 108,380 births in Coro and 2,177,774 births in other participating hospitals. Anomalies with higher prevalence in Coro were examined using case–control analyses to estimate odds ratios, attributable risk among the exposed, and population attributable risk. To address multiple testing across 40 anomalies, P-values were additionally evaluated using the Benjamini–Hochberg false discovery rate (q = 0.05). Three anomalies showed higher prevalence in Coro: spina bifida (13.7 vs. 9.7 per 10,000), hypospadias (12.0 vs. 8.1), and postaxial polydactyly (30.5 vs. 15.8) (p < 0.01). Parental consanguinity was associated with increased risk of spina bifida and postaxial polydactyly in both settings, with a larger population attributable risk in Coro due to higher exposure frequency. In Coro, multigravidity, reduced prenatal care, and a history of fetal losses were also associated with postaxial polydactyly. Regional differences in congenital anomaly prevalence within ECLAMC partly reflect variation in parental consanguinity and reproductive factors. These findings support the integration of community genetics actions (targeted counseling, risk communication) with congenital anomaly surveillance in higher-consanguinity settings.