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Optimizing a first-trimester predictive model for Trisomy 21.

机译：优化21三体妊娠的早孕预测模型。

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摘要

Trisomy 21, commonly known as Down syndrome, is the most frequent autosomal chromosomal abnormality, occurring in 1 of every 800 live births. Recently, first-trimester screening models that combine maternal age, nuchal translucency (NT), pregnancy associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (hCG) have reported a sensitivity for detection of Down syndrome pregnancies of 80-90% for a 5% false positive rate. An even more sensitive screening method for Trisomy 21 in the first trimester would allow improved detection and reduce the number of invasive procedures needed to confirm the diagnosis.; Methods. This exploratory study used data from the First Trimester Maternal Serum Biochemistry and Fetal Ultrasound Nuchal Translucency Screening (BUN) study to investigate whether the ultrasound and biochemical markers should be adjusted for maternal weight, race and smoking and if these adjustments would improve the overall performance of the screening model. Two risk methods for determining risk were explored, the likelihood ratio method and logistic regression. The performance of the newly developed model was then compared to the performance of the original BUN algorithm using an independent dataset.; Results. Adjusting the ultrasound and biochemical markers for weight and race increased the sensitivity to 78.7% compared with the unadjusted sensitivity of 75.4% for a 5% false positive rate when the likelihood ratio method was used to calculate risk. Smoking did not improve the overall performance of the model. Adding weight to the logistic regression model increased the detection rate of Trisomy 21 from 77.0% to 78.7%. Race and smoking did not improve the detection rate of Trisomy 21 when logistic regression was used. The new algorithm performed similarly to the original model on the BUN data. When the two screening models were compared using an independent dataset, the original BUN algorithm had a slightly better overall performance than the adjusted algorithm.; Conclusions. When used for first trimester screening, PAPP-A and free beta hCG are dependent on maternal weight and race and NT is dependent on race. The introduction of these adjustments into a risk assessment model did not significantly improve detection.
机译：21三体综合征，通常称为唐氏综合症，是最常见的常染色体染色体异常，每800例活产中就有1例发生。最近，结合孕产妇年龄，颈部半透明性（NT），妊娠相关血浆蛋白A（PAPP-A）和游离β人绒毛膜促性腺激素（hCG）的早孕筛查模型已报告了可检测出80- 90％的假阳性率为5％。在头三个月，对21三体症采用一种更为灵敏的筛查方法，可以提高检测效率，并减少确认诊断所需的侵入性检查程序。方法。这项探索性研究使用了孕早期孕产妇血清生化和胎儿超声颈部通透性筛查（BUN）的数据，研究是否应针对孕妇体重，种族和吸烟情况对超声和生化标志物进行调整，以及这些调整是否会改善孕妇的总体表现。筛选模型。探索了确定风险的两种风险方法，似然比法和逻辑回归。然后使用独立的数据集将新开发的模型的性能与原始BUN算法的性能进行比较。结果。当使用似然比法计算风险时，针对5％假阳性率调整超声和生化标记物的体重和种族的灵敏度将灵敏度提高至78.7％，而未经调整的灵敏度为75.4％。吸烟并未改善模型的整体性能。在Logistic回归模型中增加权重将Trisomy 21的检测率从77.0％提高到78.7％。使用Logistic回归分析时，种族和吸烟并不能提高21三体症的检出率。新算法对BUN数据的执行与原始模型相似。当使用独立的数据集比较这两种筛选模型时，原始的BUN算法的总体性能要比调整后的算法好一些。结论。当用于早孕筛查时，PAPP-A和游离βhCG取决于孕妇的体重和种族，而NT则取决于种族。将这些调整内容引入风险评估模型并不能显着提高检测效率。

著录项

  • 作者

    Gersnoviez, Rebecca Jeanne.;

  • 作者单位

    The George Washington University.$bEpidemiology.;

  • 授予单位 The George Washington University.$bEpidemiology.;
  • 学科 Health Sciences Obstetrics and Gynecology.
  • 学位 Ph.D.
  • 年度 2008
  • 页码 130 p.
  • 总页数 130
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 妇幼卫生;
  • 关键词

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