Birth Defects Res. 2026 Sep;118(9):e70119. doi: 10.1002/bdr2.70119.
ABSTRACT
BACKGROUND: Public health surveillance is critical for understanding disease burden, yet rigorous case confirmation often introduces significant latency. The Utah Birth Defect Network (UBDN) utilizes a multistage active surveillance process that, while highly accurate, is a long and labor-intensive process. This delay creates a barrier to timely family referrals for early intervention services. This study evaluates whether preliminary surveillance data is sufficiently accurate to initiate public health actions before final clinician confirmation.
METHODS: We conducted a retrospective analysis of 27 monitored birth defects for delivery years 2018-2025. Positive predictive values (PPVs) were calculated for cases identified during initial medical record review by nonclinical staff compared with the "gold standard" of final clinician-led confirmation. Analysis was performed using SAS version 9.4, with 95% confidence intervals calculated via the Wilson score method.
RESULTS: Among 1245 unique potential cases, the overall mean PPV was 68% (range: 8%-95%). Accuracy was highest for musculoskeletal defects (95%) and chromosomal anomalies (92%), with gastroschisis (95%), limb deficiencies (93%), and Trisomy 21 (92%) showing high stability. Cardiovascular defects demonstrated lower categorical accuracy (78%), with complex conditions like single ventricle (8%) showing the greatest diagnostic discordance. However, we observed categorical stability, as 77% of reclassified cardiovascular cases remained within the same body system.
CONCLUSION: Preliminary surveillance reviews demonstrate high diagnostic stability for the majority of monitored conditions. These findings validate the use of preliminary data to trigger early family-centered referrals, significantly reducing the latency between case confirmation and intervention without compromising the integrity of formal reporting.
PMID:42760838 | DOI:10.1002/bdr2.70119