The association between paternal race and ethnicity and a spectrum of birth defects in a national case-control study

To estimate associations between paternal race and ethnicity and a spectrum of birth defects.

We analyzed data from the National Birth Defects Prevention Study for infants with birth defects and controls delivered between 1997-2011. Using unconditional logistic regression, we assessed associations between paternal race and ethnicity and 32 birth defects, before and after adjusting for maternal race and ethnicity and 14 other factors.

Data from 33,455 fathers were analyzed (889 Asian/Pacific Islander [A/PI], 8394 Hispanic, 4139 non-Hispanic Black [NHB], and 20,033 non-Hispanic White [NHW]). Compared with NHW fathers, A/PI paternal race and ethnicity was significantly associated with 6/32 defects, Hispanic paternal ethnicity with 6/32 defects, and NHB paternal race and ethnicity with 7/32 defects, after adjustment. The strongest associations included A/PI and pulmonary valve stenosis (adjusted odds ratio [aOR] 0.36, 95 % CI 0.18-0.71), Hispanic and heterotaxy (aOR 2.53, 95 % CI 1.57-4.06), and NHB and gastroschisis (aOR 2.25, 95 % CI 1.62-3.12).

Paternal race and ethnicity were associated with heterotaxy, cleft lip with or without cleft palate, and spina bifida, independent of maternal race and ethnicity. These findings warrant replication and further investigation into biological, environmental, and social mechanisms that may underlie these associations.