Department of Neonatology, Amsterdam Public Health and Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centres, location VUmc, Amsterdam, The Netherlands.
Dutch Down Syndrome Foundation, Meppel, The Netherlands.
Prenat Diagn. 2021 Sep;41(10):1351-1359. doi: 10.1002/pd.6003. Epub 2021 Jul 1.
To evaluate if non-invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands.
Data from clinical genetics laboratories and the Working Party on Prenatal Diagnosis and Therapy (2014-2018) and previous published data (1991-2013) were used to assess trends for DS LB prevalence and reduction percentage (the net decrease in DS LBs resulting from selective termination of pregnancies). Statistics Netherlands provided general population data.
DS LB prevalence increased from 11.6/10,000 in 1991 to 15.9/10,000 in 2002 (regression coefficient 0.246 [95% CI: 0.105-0.388; p = 0.003]). After 2002, LB prevalence decreased to 11.3/10,000 in 2014 and further to 9.9/10,000 in 2018 (regression coefficient 0.234 (95% CI: -0.338 to -0.131; p < 0.001). The reduction percentage increased from 26% in 1991 to 55.2% in 2018 (regression coefficient 0.012 (95% CI: 0.010-0.013; p < 0.001)). There were no trend changes after introducing NIPT as second-tier (2014) and first-tier test (2017).
Introducing NIPT did not change the decreasing trend in DS LB prevalence and increasing trend in reduction percentage. These trends may be caused by a broader development of more prenatal testing that had already started before introducing NIPT.
评估荷兰的非侵入性产前检测（NIPT）是否会影响唐氏综合征（DS）的活产（LB）患病率。
使用临床遗传学实验室和产前诊断与治疗工作组的数据（2014-2018 年）和之前发表的数据（1991-2013 年）来评估 DS LB 患病率和减少百分比的趋势（由于选择性终止妊娠而导致 DS LB 数量净减少）。荷兰统计局提供了一般人群数据。
DS LB 患病率从 1991 年的 11.6/10000 上升至 2002 年的 15.9/10000（回归系数 0.246[95%CI:0.105-0.388;p=0.003]）。2002 年后，LB 患病率在 2014 年降至 11.3/10000，并在 2018 年进一步降至 9.9/10000（回归系数 0.234[95%CI:-0.338 至 -0.131;p<0.001]）。减少百分比从 1991 年的 26%增加到 2018 年的 55.2%（回归系数 0.012[95%CI:0.010-0.013;p<0.001]）。引入二级（2014 年）和一级（2017 年）NIPT 后，没有趋势变化。
引入 NIPT 并没有改变 DS LB 患病率下降和减少百分比增加的趋势。这些趋势可能是由于在引入 NIPT 之前，更广泛地开展了更多的产前检测所导致的。
