Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study
Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study
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DOI：
10.1038/gim.2018.4
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发表时间：
2018-11-01
影响因子：
8.8
通讯作者：
Benachi, Alexandra
中科院分区：
文献类型：
--
作者：
Costa, Jean-Marc;Letourneau, Alexandra;Benachi, Alexandra
目的：无细胞DNA（cfDNA）作为一种主要的筛查测试已经存在多年，但很少有研究以前瞻性的方式解决这个问题。这个问题是感兴趣的报告后，孕产妇血清筛查（MSS）是准确性较低的妊娠辅助生殖技术（ART）比自然怀孕（SP）。方法：一项前瞻性的干预性研究旨在解决的性能cfDNA与MSS相比，在怀孕或不ART。每个病人都提供MSS和cfDNA测试。主要分析队列最终包括794例自发妊娠（SP）（n = 472）或ART后妊娠（n = 322）的患者。结果：总体而言，MSS的假阳性率和阳性预测值为6.6%和8.8%，而cfDNA为0%和100%。ART组MSS假阳性率和阳性预测值（11.7%和2.6%）明显低于SP组（3.2%和21.1%）。cfDNA的侵入性操作的全球率为1.9%（15/794），但如果单独提出MSS，则为8.4%（65/794）。结论：cfDNA在自发妊娠和ART妊娠中均获得比MSS更好的性能，从而减少侵入性操作的数量。我们的研究结果表明，cfDNA应该被考虑用于初级筛查，特别是在ART后获得的妊娠中。
Purpose: Cell-free DNA (cfDNA) as a primary screening test has been available for years but few studies have addressed this option in a prospective manner. The question is of interest after reports that maternal serum screening (MSS) is less accurate for pregnancies resulting from assisted reproduction technologies (ART) than for spontaneous pregnancies (SP).Methods: A prospective interventional study was designed to address the performances of cfDNA compared with MSS in pregnancies with or without ART. Each patient was offered both MSS and cfDNA testing. The primary analysis cohort ultimately included 794 patients with a spontaneous pregnancy (SP) (n = 472) or pregnancy obtained after ART (n = 322).Results: Overall, the false-positive rate and positive predictive value were 6.6% and 8.8% for MSS but 0% and 100% for cfDNA. MSS false-positive rate and positive predictive values were clearly poorer in the ART group (11.7% and 2.6%) than in the SP group (3.2% and 21.1%). The global rates of invasive procedures were 1.9% (15/794) with cfDNA but 8.4% (65/794) if MSS alone was proposed.Conclusion: cfDNA achieved better performance than MSS in both spontaneous and ART pregnancies, thus decreasing the number of invasive procedures. Our findings suggest that cfDNA should be considered for primary screening, especially in pregnancies obtained after ART.