Accuracy of Preliminary Birth Defect Surveillance in Utah: A Validation Study Supporting Timely Family Referrals

IF 2 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research Pub Date : 2026-09-18 DOI:10.1002/bdr2.70119

Aubree Boyce, Stephanie Pocius

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引用次数: 0

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.

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犹他州初步出生缺陷监测的准确性：一项支持及时家庭转诊的验证研究

背景：公共卫生监测对于了解疾病负担至关重要，但严格的病例确认往往会带来明显的延迟。犹他州出生缺陷网络（UBDN）采用多阶段主动监测过程，虽然高度准确，但这是一个漫长而劳动密集型的过程。这种延误造成了家庭及时转介接受早期干预服务的障碍。本研究评估初步监测数据是否足够准确，以便在最终临床医生确认之前启动公共卫生行动。方法回顾性分析2018-2025年27例出生缺陷监测病例。将非临床工作人员在初始病历审查期间确定的病例与临床医生主导的最终确认的“金标准”进行比较，计算阳性预测值（ppv）。采用SAS 9.4版进行分析，95%置信区间采用Wilson计分法计算。结果在1245例独特的潜在病例中，总体平均PPV为68%（范围：8%-95%）。准确率最高的是肌肉骨骼缺陷（95%）和染色体异常（92%），胃裂裂（95%）、肢体缺陷（93%）和21三体（92%）表现出很高的稳定性。心血管缺陷表现出较低的分类准确性（78%），复杂的情况，如单心室（8%）显示出最大的诊断不一致。然而，我们观察到分类的稳定性，因为77%的重新分类的心血管病例仍在同一身体系统内。结论初步的监测回顾表明，对大多数监测条件的诊断具有很高的稳定性。这些发现证实了使用初步数据来触发以家庭为中心的早期转诊，大大减少了病例确认和干预之间的延迟，而不会损害正式报告的完整性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.