Center for Fetal Medicine, Pregnancy and Ultrasound, University Hospital Rigshospitalet, Copenhagen, Denmark.
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Acta Obstet Gynecol Scand. 2020 Jun;99(6):722-730. doi: 10.1111/aogs.13841. Epub 2020 Apr 3.
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.
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.
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).
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.
利用游离胎儿 DNA 的非侵入性产前检测 (NIPT) 已越来越多地被用作胎儿非整倍体的筛查工具。有几项研究讨论了 NIPT 与超声和有创性程序相比的优缺点，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 NIPT 在欧洲、澳大利亚和美国的当前使用情况。
我们进行了一项调查，以描述 NIPT 的当前使用情况。同事们在自己国家的电子邮件基础问卷中填写了有关 NIPT 的信息，提供了以下信息：(a) NIPT 的可及性，(b) NIPT 的染色体覆盖范围，(c) NIPT 对患者的财务覆盖范围，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。
在欧洲，14 个国家已将 NIPT 纳入国家政策/计划。有两个国家（比利时和荷兰）为所有孕妇提供 NIPT，而其他大多数欧洲国家则在孕早期筛查后为高风险女性提供 NIPT。在澳大利亚，联合孕早期筛查 (cFTS) 或 NIPT 用作主要产前筛查试验。在美国，没有关于 NIPT 使用的国家共识政策；然而，NIPT 已得到广泛应用。在提供 NIPT 的大多数欧洲国家中，使用 NIPT 的女性比例远低于 25%。在荷兰、奥地利、意大利、西班牙和大多数澳大利亚和美国的州，有 25%-50%的女性进行了 NIPT 检测，而在比利时，检测率超过 75%。在大多数国家，NIPT 报告三体 13、18 和 21，并且通常还报告性染色体非整倍体。只有在比利时、荷兰、立陶宛、希腊、塞浦路斯和意大利，NIPT 主要作为全基因组测试（包括一些微缺失或全基因组覆盖）提供。
非侵入性产前检测已在欧洲、澳大利亚和美国得到广泛应用，但只有少数国家/州有关于 NIPT 使用的国家政策。NIPT 的利用差异很大。
