BACKGROUND: ‘Birth defect’ is a common phrase, yet concerns have been expressed that the word ‘defect’ carries a negative connotation. Our objective was to examine public perceptions of terms used to refer to birth defects. METHODS: Four questions about terminology of birth defects were included in the U.S. nationally representative 2007 HealthStyles survey. Respondents answered questions about whether they or a family member were affected by birth defects (condition status), and which terms used to refer to birth defects they found preferable and which offensive. We further examined whether condition status, race/ethnicity, gender, income, geographical region, and education level impacted respondents' term selection. Chi-square tests and multinomial logistic regression were performed using SAS 9.1. RESULTS: ‘Birth defects’ was most frequently selected as the first choice preferred term (35.4%), followed by 21.9% who selected ‘children with special needs. ’ For respondents who said they themselves or a family member were affected by birth defects (11.5%), their responses differed statistically (p ≤ 0.0001) from nonaffected respondents, but the leading choices were still ‘birth defects’ (28.5%) and ‘children with special needs’ (27.2%). Condition status, race/ethnicity, gender, income, and education level were all significant predictors of the respondents' choice of a preferred term. When asked which phrases might be offensive, the top choices were ‘none of the phrases listed’ (37.0%), ‘adverse pregnancy outcomes’ (23.1%), and ‘birth defects’ (21.4%). CONCLUSIONS: ‘Birth defect’ was the preferred term; however, survey participants affected by birth defects responded less positively to the term. Continued dialogue about accepted and appropriate terminology is necessary.Birth Defects Research (Part A) 2012. © 2012 Wiley Periodicals, Inc.