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Paternal age and the risk of congenital heart defects
A F Olshan1, P G Schnitzer, P A Baird
1Department of Epidemiology, School of Public Health, University of North Carolina, Chapel Hill 27599.
Insights
Advanced paternal age increases the risk of certain congenital heart defects, including ventricular septal defects (VSD) and atrial septal defects (ASD). This study suggests paternal age may contribute to approximately 5% of VSD cases.
Area of Science:
- Reproductive Health
- Pediatric Cardiology
- Genetic Epidemiology
Background:
- Paternal age's impact on birth defect risk is understudied compared to maternal age.
- Advanced paternal age is linked to de novo dominant mutations causing congenital anomalies.
- The association between paternal age and common cardiac defects requires further investigation.
Purpose of the Study:
- To evaluate the relationship between paternal age and the risk of specific congenital heart defects.
- To investigate paternal age as a risk factor for common cardiac anomalies, including ventricular septal defects (VSD), atrial septal defects (ASD), and patent ductus arteriosus (PDA).
Main Methods:
- A case-control study utilizing data from the British Columbia Health Surveillance Registry (1952-1973).
- Identified 4,110 cases of congenital heart defects and matched them with controls.
- Estimated prevalence odds ratios for paternal age, adjusting for maternal age and other covariates.
Main Results:
- A trend of increasing risk for VSD, ASD, and PDA with advancing paternal age was observed.
- Increased risk for VSD and ASD was noted in offspring of fathers younger than 20 years.
- Findings suggest paternal age may account for approximately 5% of VSD cases, potentially via dominant mutations.
Conclusions:
- Paternal age is a significant risk factor for specific congenital heart defects.
- The study supports the hypothesis that advanced paternal age contributes to the incidence of certain cardiac anomalies.
- Further research into paternal age-related genetic mechanisms for birth defects is warranted.
Abstract:
The effect of paternal age on the risk of birth defects among offspring is less well studied than the effect of maternal age, with few comprehensive epidemiologic studies having been conducted. Advanced paternal age has been shown to be associated with an increase in new dominant mutations that result in particular congenital anomalies. The relationship between paternal age and more common birth defects, for example, cardiac defects, has not been as extensively evaluated. Therefore, a total of 4,110 cases of congenital heart defects was identified from the British Columbia Health Surveillance Registry. Matched controls were obtained from the birth files of British Columbia for the years 1952-1973. Prevalence odds ratios for paternal age, adjusted for maternal age and other factors, were estimated for 8 cardiac defect groups. A suggestive general pattern of increasing risk with increasing age among cases (excluding chromosomal anomalies) relative to controls was found for ventricular septal defects (VSD), atrial septal defects (ASD), and patent ductus arteriosus (PDA). In addition, an increased risk among men younger than 20 yr was found for VSD and ASD. These findings are consistent with the results of some previous epidemiologic studies. Based on the results of this study it is estimated that for cardiac defects such as VSD, approximately 5% of cases may be due to advanced paternal age (> 35 yr), possibly through dominant mutations.