Survival and reproduction among males with birth defects and risk of recurrence in their children

Context Few systematic data exist on survival and reproduction among males with birth defects and their contribution to occurrence of birth defects in the next generation. Objective To estimate survival of males with registered birth defects, their subsequent reproduction rates, and their risk of transmitting birth defects to their offspring. Design and Setting Population-based cohort study of data from the Medical Birth Registry of Norway. Subjects A total of 486207 males born in Norway between 1967 and 1982, 12292 of whom had a recorded birth defect. Main Outcome Measures Survival rates through 1992, reproduction rates through 1998, and risk of birth defects among offspring of males with vs without birth defects. Results Survival through 1992 was lower among males with birth defects (84% vs 97%). Compared with males without birth defects, affected males were 28% less likely to have had a child. Among offspring of affected males, 5.1% had a registered birth defect compared with 2.1% of offspring of males without birth defects (relative risk [RR], 2.4; 95% confidence interval [CI], 1.9-3.0), Offspring of affected fathers had an increased risk of the same defect as their fathers (RR, 6.5; 95% CI, 4.0-10.4) and an increased risk of dissimilar defects (RR, 1.8; 95% CI, 1.3-2.5). Conclusions Compared with unaffected males, males with birth defects have higher mortality and survivors are less likely to have a child. Fathers with birth defects are significantly more likely than unaffected fathers to have an affected child.