Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation
Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation
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DOI：
10.1111/aogs.13841
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发表时间：
2020-04-03
影响因子：
4.3
通讯作者：
Velissariou, Voula
中科院分区：
文献类型：
--
作者：
Gadsboll, Kasper;Petersen, Olav B.;Velissariou, Voula
简介 使用胎儿游离 DNA 的无创产前检测 (NIPT) 已越来越多地被用作胎儿非整倍体的筛查工具。多项研究讨论了 NIPT 与超声和侵入性手术相比的优点和局限性，但尽管存在一些缺点，NIPT 在过去 5 年内已得到广泛应用。本研究旨在描述欧洲、澳大利亚和美国目前 NIPT 的使用情况。材料和方法我们进行了一项调查来描述 NIPT 的当前使用情况。同事们在自己的国家填写了一份关于 NIPT 的简单电子邮件调查问卷，提供了以下信息：(a) 获得 NIPT 的机会、(b) NIPT 的染色体覆盖范围、(c) NIPT 对患者的经济覆盖范围以及 (d) 怀孕期间使用 NIPT 的女性比例。由于缺乏国家数据，一些数据是最佳临床估计。结果 在欧洲，14 个国家已将 NIPT 纳入国家政策/计划。两个国家（比利时和荷兰）为所有孕妇提供 NIPT，而大多数其他欧洲国家已实施 NIPT，作为妊娠早期筛查后高风险女性的一项服务。在澳大利亚，妊娠早期联合筛查 (cFTS) 或 NIPT 被用作主要产前筛查测试。在美国，对于 NIPT 的使用没有全国共识的政策；然而，NIPT 已得到广泛实施。在大多数提供 NIPT 的欧洲国家，使用 NIPT 的女性比例远低于 25%。在荷兰、奥地利、意大利、西班牙以及大多数澳大利亚和美国州，25%-50% 的女性接受了 NIPT，而在比利时，检测率高于 75%。在大多数国家，NIPT 报告 13 三体、18 三体和 21 三体，通常还报告性染色体非整倍体。仅在比利时、荷兰、立陶宛、希腊、塞浦路斯和意大利，NIPT 主要作为全基因组检测（包括一些微缺失或全基因组覆盖）提供。 结论 无创产前检测已在欧洲、澳大利亚和美国广泛采用，但只有少数国家/州制定了关于使用 NIPT 的国家政策。 NIPT 利用率的差异相当大。
Introduction Noninvasive prenatal testing (NIPT) using cell-free fetal DNA has increasingly been adopted as a screening tool for fetal aneuploidies. Several studies have discussed benefits and limitations of NIPT compared with both ultrasound and invasive procedures, but in spite of some shortcomings NIPT has become extensively used within the last 5 years. This study aims to describe the current use of NIPT in Europe, Australia and the USA.Material and methods We conducted a survey to describe the current use of NIPT. Colleagues filled in a simple email-based questionnaire on NIPT in their own country, providing information on (a) access to NIPT, (b) NIPT's chromosomal coverage, (c) financial coverage of NIPT for the patient and (d) the proportion of women using NIPT in pregnancy. Some data are best clinical estimates, due to a lack of national data.Results In Europe, 14 countries have adopted NIPT into a national policy/program. Two countries (Belgium and the Netherlands) offer NIPT for all pregnant women, whereas most other European countries have implemented NIPT as an offer for higher risk women after first trimester screening. In Australia, either combined first trimester screening (cFTS) or NIPT is used as a primary prenatal screening test. In the USA, there are no national consensus policies on the use of NIPT; however, NIPT is widely implemented. In most European countries offering NIPT, the proportion of women using NIPT is well below 25%. In the Netherlands, Austria, Italy, Spain and most Australian and American States, 25%-50% of women have NIPT performed and in Belgium testing is above 75%. In most countries, NIPT reports on trisomy 13, 18 and 21, and often also on sex chromosome aneuploidies. Only in Belgium, the Netherlands, Lithuania, Greece, Cyprus and Italy is NIPT offered predominantly as a genome-wide test (including some microdeletions or a whole genome coverage).Conclusions Noninvasive prenatal testing has been widely adopted throughout Europe, Australia and the USA, but only a few countries/states have a national policy on the use of NIPT. The variation in NIPT utilization is considerable.