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Joint estimation of Down syndrome risk and ascertainment rates: a meta-analysis of nine published data sets.

机译：唐氏综合症风险和确定率的联合估计：对9个公开数据集的荟萃分析。

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摘要

In this paper we present an analysis of nine data sets in which ascertainment and maternal age risk of Down syndrome are estimated jointly using maximum likelihood. We include data on 4825 Down syndrome cases from nine previously published data sets. These include data from studies carried out before the introduction of prenatal screening and from recent studies involving women who had not received prenatal testing. Our results show that, allowing for under-ascertainment, there is a good degree of consistency between the different data sets. We compare the three- and five-parameter constant plus exponential model with a three-parameter logistic model for maternal age-specific risk. We show that the three-parameter logistic model provides a good fit to the data and compare rates from this model with those derived from published studies of uncertain completeness (Cuckle et al., 1987) and those from data sets believed to be complete (Halliday et al., 1995; Hecht and Hook, 1994, 1996). In general, our results agree closely with those of the latter, but achieve greater precision because of the inclusion of additional data. Our derived rates are considerably higher than those of Cuckle et al. (1987), which are embedded in many computer systems for generating risks.
机译：在本文中，我们对9个数据集进行了分析，其中使用最大似然估计了唐氏综合症的确定性和产妇年龄风险。我们从9个先前发布的数据集中纳入了4825个唐氏综合症病例的数据。这些数据包括来自在进行产前筛查之前进行的研究以及来自尚未接受产前检查的妇女的最新研究的数据。我们的结果表明，考虑到不确定性，不同数据集之间具有很好的一致性。我们将三参数和五参数常数加指数模型与三参数逻辑模型比较了针对孕妇的特定年龄风险。我们表明，三参数逻辑模型可以很好地拟合数据，并将该模型的速率与已发表的不确定性完整性研究（Cuckle等，1987）以及那些被认为是完整的数据集（Halliday）的速率进行比较。等人，1995; Hecht and Hook，1994，1996）。通常，我们的结果与后者的结果非常吻合，但是由于包含了其他数据，因此可以达到更高的精度。我们得出的比率大大高于Cuckle等人的比率。 （1987），它们被嵌入许多计算机系统中以产生风险。

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