A physician survey regarding diagnostic variability among birth defects.

摘要

Birth defects vary in severity and visibility. While severe or apparent cases are found universally, mild cases and/or those that are not obvious on physical exam may be diagnosed in the newborn period only in tertiary care hospitals. This variability may result in artifac-tual geographical "clusters" or increasing trends over time as new technology is adopted. The impact of such variability on observed prevalence has been documented in heart defects [e.g., Martin et al., 1989; Khoury and Erickson, 1992; Wilson et al., 1993; Tikkanoja, 1995; Grech, 1999], craniosynostosis [e.g., Alderman et al., 1997], and hypospadias [e.g., Toppari et al., 2001].