Key Lab of Health Technology Assessment, Ministry of Health (Fudan University), School of Public Health, Fudan University, Shanghai, China.
Collaborative Innovation Centre of Social Risks Governance in Health, School of Public Health, Fudan University, Shanghai, China.
BJOG. 2016 Sep;123 Suppl 3:12-22. doi: 10.1111/1471-0528.14009.
Controversies about the performance of conventional prenatal screening using maternal serum and ultrasound markers (PSMSUM) in detecting Down syndrome (DS) have been raised as a result of a recently available noninvasive prenatal test based on cell-free fetal DNA sequencing.
To evaluate the screening performance of PSMSUM in detecting DS in Chinese women.
An exhaustive literature search of MEDLINE, Embase, the Cochrane Library, ISI Web of Science and China BioMedical Disc.
Primary studies, published from January 2004 to November 2014, which examined the screening accuracy of PSMSUM in pregnant Chinese women, compared with a reference standard, either chromosomal verification or inspection of the newborn.
Data were extracted as screening positive/negative results for Down and non-Down syndrome pregnancies, allowing estimation of sensitivities and specificities. Risks of bias within and across studies were assessed. Screening accuracy measures were pooled using a bivariate random effects regression model.
Seventy-eight studies, involving six categories of PSMSUM, were included. Second-trimester double serum [pooled sensitivity (SEN) = 0.80, pooled specificity (SPE) = 0.95] and triple-serum (pooled SEN = 0.79, pooled SPE = 0.96) screening were the predominant PSMSUM methods. The screening performances of these methods achieved the national standard but varied enormously across studies. First-trimester combined screening (pooled SEN = 0.92, pooled SPE = 0.93) and second-trimester quadruple serum screening (median SEN = 0.86, median SPE = 0.96) performed better, but were rarely used.
AUTHOR'S CONCLUSIONS: Second-trimester maternal serum screening has the potential to achieve satisfactory screening performance in middle- and low-income countries. The reported enormous range in screening performance of second-trimester PSMSUM calls for urgent implementation of methods for performance optimization.
Meta-analysis results show good accuracy of maternal serum and ultrasound screening for trisomy 21 in Chinese women.
由于最近一种基于游离胎儿 DNA 测序的非侵入性产前检测技术的出现，使用母体血清和超声标志物（PSMSUM）进行常规产前筛查检测唐氏综合征（DS）的性能引起了争议。
评估 PSMSUM 在检测中国女性 DS 中的筛查性能。
全面检索 MEDLINE、Embase、Cochrane 图书馆、ISI Web of Science 和中国生物医学文献数据库。
2004 年 1 月至 2014 年 11 月发表的研究，检查 PSMSUM 在接受筛查的中国孕妇中的筛查准确性，与参考标准（染色体验证或新生儿检查）进行比较。
提取唐氏和非唐氏妊娠的筛查阳性/阴性结果，以估计敏感性和特异性。评估研究内和研究间的偏倚风险。使用双变量随机效应回归模型对筛查准确性指标进行汇总。
共纳入 78 项研究，涉及 PSMSUM 的六个类别。第二个三个月的双血清（合并敏感性[SEN] = 0.80，合并特异性[SPE] = 0.95）和三血清（合并 SEN = 0.79，合并 SPE = 0.96）筛查是 PSMSUM 的主要方法。这些方法的筛查性能达到国家标准，但在研究间差异很大。第一个三个月的联合筛查（合并 SEN = 0.92，合并 SPE = 0.93）和第二个三个月的四重血清筛查（中位数 SEN = 0.86，中位数 SPE = 0.96）表现更好，但很少使用。
第二个三个月的母体血清筛查有可能在中低收入国家实现令人满意的筛查性能。报告的第二个三个月 PSMSUM 筛查性能范围巨大，迫切需要实施优化方法。
荟萃分析结果表明，母体血清和超声筛查唐氏综合征 21 三体在中国女性中具有良好的准确性。
