Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines.

PURPOSE

Cystic fibrosis (CF) carrier screening guidelines have been in place for almost a decade. The purpose of this study was to determine the current awareness by obstetricians of the existence and content of practice guidelines, the variety in practice regarding CF carrier screening, and the level of knowledge regarding CF genetics and screening result interpretation. We also explored potential barriers to offering screening and whether academic affiliation or type of practice influenced outcome.

METHODS

An online survey program was used to deliver a questionnaire to obstetricians throughout the United States. One hundred fifty-six respondents participated, with 143 answering all questions in the survey.

RESULTS

Although most obstetricians are aware of screening guidelines and have accurate knowledge about CF carrier screening, 12.3% were not aware of carrier screening guidelines, 17.7% were unable to interpret basic results, 16.5% experienced barriers to offering screening, and 43% lacked information regarding carrier rates, screening sensitivity, and residual risk.

CONCLUSION

Most obstetricians offer CF carrier screening and will refer to genetic counseling services at times. However, we identified a deficiency of information in a concerning percentage of practitioners. This deficiency could be improved by targeted and readily accessible educational efforts, especially for obstetricians not affiliated with academia.