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Comparison of indications and results of prenatal invasive diagnostic tests before and after the implementation of the use of cell-free fetal DNA: a tertiary referral center experience.
Journal of Assisted Reproduction and Genetics ( IF 3.2 ) Pub Date : 2020-05-21 , DOI: 10.1007/s10815-020-01825-3
Firat Okmen 1 , Huseyin Ekici 1 , Ismet Hortu 1, 2 , Metehan Imamoglu 3 , Duygu Arican 4 , Haluk Akın 4 , Sermet Sagol 1
Affiliation  

PURPOSE In this study, we aimed to compare the changes in the number, yield, and the percentage of karyotyping indications of the invasive prenatal diagnostic tests between the periods before and after cell-free fetal DNA was introduced to clinical use. METHOD The number of invasive prenatal diagnostic procedures such as amniocentesis and chorionic villus sampling, indication percentages and karyotype results in the periods before (January 1, 2009-December 31, 2010), (n = 1412) and after (January 1, 2016-December 31, 2017), and (n = 593) the introduction of cell-free fetal DNA was retrospectively evaluated. RESULTS When compared with the period before cell-free fetal DNA came into clinical use, the number of invasive prenatal diagnostic tests decreased by 58% while their yield was found to have increased (4.4% vs. 10.3%) in the period after cell-free DNA began to be used (p < 0.001). While there was a decrease in the indications due to advanced maternal age, an increase was found in ultrasonography indications for structural anomaly and the risk of a single-gene disorder (p < 0.001). Amniocentesis rate was found to have decreased in invasive prenatal diagnostic procedure types, while an increase was reported in CVS rates (p < 0.001). CONCLUSIONS Invasive prenatal diagnosis gradually decreases over the years, but the yield of invasive prenatal diagnostic tests increases. In parallel with the rapid development of modern molecular technologies and cheaper and easier access to the tests, we think that the number of invasive prenatal diagnostic tests will experience a more dramatic decrease in the following years.

中文翻译:

实施无细胞胎儿DNA使用前后产前侵入性诊断测试的适应症和结果的比较:三级转诊中心的经验。

目的 在本研究中,我们旨在比较无细胞胎儿 DNA 引入临床使用前后期间侵入性产前诊断测试的数量、产量和核型分析指征百分比的变化。方法 之前(2009年1月1日-2010年12月31日)、(n = 1412)和之后(2016年1月1日- 2017 年 12 月 31 日)和(n = 593)对无细胞胎儿 DNA 的引入进行了回顾性评估。结果 与无细胞胎儿 DNA 进入临床使用之前的时期相比,侵入性产前诊断测试的数量减少了 58%,但发现其产量有所增加(4.4% vs. 10. 3%) 在开始使用无细胞 DNA 之后的时期 (p < 0.001)。虽然由于母亲年龄较大,适应症有所减少,但发现结构异常和单基因疾病风险的超声检查适应症有所增加(p < 0.001)。发现有创产前诊断程序类型的羊膜穿刺率降低,而 CVS 率报告增加(p < 0.001)。结论多年来,侵入性产前诊断逐渐减少,但侵入性产前诊断测试的产量增加。随着现代分子技术的快速发展以及更便宜和更容易获得的检测,我们认为侵入性产前诊断检测的数量将在接下来的几年中急剧下降。虽然由于母亲年龄较大,适应症有所减少,但发现结构异常和单基因疾病风险的超声检查适应症有所增加(p < 0.001)。发现有创产前诊断程序类型的羊膜穿刺率降低,而 CVS 率报告增加(p < 0.001)。结论多年来,侵入性产前诊断逐渐减少,但侵入性产前诊断测试的产量增加。随着现代分子技术的快速发展以及更便宜和更容易获得的检测,我们认为侵入性产前诊断检测的数量将在接下来的几年中急剧下降。虽然由于母亲年龄较大,适应症有所减少,但发现结构异常和单基因疾病风险的超声检查适应症有所增加(p < 0.001)。发现有创产前诊断程序类型的羊膜穿刺率降低,而 CVS 率报告增加(p < 0.001)。结论多年来,侵入性产前诊断逐渐减少,但侵入性产前诊断测试的产量增加。随着现代分子技术的快速发展以及更便宜和更容易获得的检测,我们认为侵入性产前诊断检测的数量将在接下来的几年中急剧下降。在超声检查中发现结构异常和单基因疾病风险增加(p < 0.001)。发现有创产前诊断程序类型的羊膜穿刺率降低,而 CVS 率报告增加(p < 0.001)。结论多年来,侵入性产前诊断逐渐减少,但侵入性产前诊断测试的产量增加。随着现代分子技术的快速发展以及更便宜和更容易获得的检测,我们认为侵入性产前诊断检测的数量将在接下来的几年中急剧下降。在超声检查中发现结构异常和单基因疾病风险增加(p < 0.001)。发现有创产前诊断程序类型的羊膜穿刺率降低,而 CVS 率报告增加(p < 0.001)。结论多年来,侵入性产前诊断逐渐减少,但侵入性产前诊断测试的产量增加。随着现代分子技术的快速发展以及更便宜和更容易获得的检测,我们认为侵入性产前诊断检测的数量将在接下来的几年中急剧下降。同时报告 CVS 率增加(p < 0.001)。结论多年来,侵入性产前诊断逐渐减少,但侵入性产前诊断测试的产量增加。随着现代分子技术的快速发展以及更便宜和更容易获得的检测,我们认为侵入性产前诊断检测的数量将在接下来的几年中急剧下降。同时报告 CVS 率增加(p < 0.001)。结论多年来,侵入性产前诊断逐渐减少,但侵入性产前诊断测试的产量增加。随着现代分子技术的快速发展以及更便宜和更容易获得的检测,我们认为侵入性产前诊断检测的数量将在接下来的几年中急剧下降。
更新日期:2020-05-21
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