The Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.
Pediatr Res. 2021 Nov;90(5):1081-1085. doi: 10.1038/s41390-021-01416-7. Epub 2021 Mar 5.
Non-invasive prenatal screening (NIPS) has fundamentally changed the screening process for Down syndrome (DS). Rates of complex congenital heart defects (CHD) have decreased in international studies but whether these shifts exist in the US is unknown.
Encounters for neonates with DS from 2007 to 2018 were obtained from the Pediatric Health Information System database. CHD were categorized as complex CHD, atrioventricular septal defects (AVSD), ventricular septal defects (VSD), and tetralogy of Fallot (TOF). Comparisons were made between pre-NIPS era (2007-2010) vs. post-NIPS era (2014-2018) and between states with low vs. high access to pregnancy termination as described by the Guttmacher Institute.
Among 9122 patients, 6% had complex CHD, 22% had an AVSD, 22% had a VSD, and 4% had TOF. No difference in proportions of CHD was seen between eras. A small difference was observed in the proportion of AVSD between states with low vs. high access to pregnancy termination (23 vs. 17%, p < 0.001).
The proportion of CHD in patients with DS appears to be stable despite widespread adoption of NIPS in the US. Variations were observed between states with low vs. high access to pregnancy termination. Population based studies are needed to fully evaluate the current epidemiology of CHD in DS.
Through investigation of the Pediatric Health Information System database, this study assesses contemporary epidemiology of congenital heart disease among patients with Down syndrome. It has been suggested that improved prenatal screening for Down syndrome has altered the cardiac phenotype in international populations. Whether a similar shift also exists in the United States is unknown. In a contemporary United States cohort, a shift in the proportion or type of heart defects over the past decade was not observed. Regional differences in the proportion of heart defects were seen and may be due to differential access to prenatal care.
非侵入性产前筛查（NIPS）从根本上改变了唐氏综合征（DS）的筛查过程。国际研究表明，复杂先天性心脏病（CHD）的发生率有所下降，但在美国是否存在这种变化尚不清楚。
从儿科健康信息系统数据库中获取 2007 年至 2018 年间患有 DS 的新生儿的就诊记录。CHD 分为复杂 CHD、房室间隔缺损（AVSD）、室间隔缺损（VSD）和法洛四联症（TOF）。比较 NIPS 前时代（2007-2010 年）与 NIPS 后时代（2014-2018 年），以及根据盖特马赫研究所（Guttmacher Institute）的描述，妊娠终止机会高低不同的各州之间的差异。
在 9122 名患者中，6%患有复杂 CHD，22%患有 AVSD，22%患有 VSD，4%患有 TOF。两个时代之间 CHD 的比例没有差异。在妊娠终止机会高低不同的各州之间，AVSD 的比例存在较小差异（23%对 17%，p<0.001）。
尽管美国广泛采用 NIPS，但 DS 患者 CHD 的比例似乎保持稳定。在妊娠终止机会高低不同的各州之间观察到差异。需要进行基于人群的研究来全面评估 DS 中 CHD 的当前流行病学。
通过对儿科健康信息系统数据库的调查，本研究评估了唐氏综合征患者中先天性心脏病的当代流行病学。有研究表明，唐氏综合征的产前筛查得到改善，改变了国际人群的心脏表型。在美国是否也存在类似的变化尚不清楚。在当代美国队列中，在过去十年中，心脏缺陷的比例或类型没有观察到变化。观察到心脏缺陷比例的区域差异，这可能是由于产前护理机会的差异所致。
