Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Inge Lehmanns Alle 7, 2100 Copenhagen O, Denmark.
Department of Paediatrics, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200 Aarhus N, Denmark.
Int J Cardiol. 2019 Sep 1;290:93-99. doi: 10.1016/j.ijcard.2019.05.017. Epub 2019 May 7.
Major congenital heart diseases (CHD) often demand intervention in the neonatal period. Prenatal diagnosis may improve mortality by eliminating the diagnostic delay; however, there is controversy concerning its true effect. We aimed to evaluate the effect of general prenatal screening on prognosis by comparing a period without general prenatal screening to a period with general prenatal screening.
We conducted a nationwide retrospective study including live born children and terminated fetuses diagnosed with major CHD. Prenatal screening was recommended only in high risk pregnancies between 1996 and 2004, whereas general prenatal screening was recommended between 2005 and 2013. We assessed the influence of general prenatal screening on all-cause mortality, cardiac death, preoperative and postoperative 30-day mortality and complication rate.
1-year mortality decreased over both periods, but the decrease was greater in the screening period (Odds ratio 0.92 (CI 0.83-1.00), p = 0.047). Prenatal detection of major CHD was associated with cardiac death in the period without general screening (Hazard Ratio 2.40 (CI 1.72-3.33), p < 0.001), whereas there was no significant association once general screening was implemented. Similarly, the association between prenatal diagnosis and pre- and postoperative mortality found in the period without general screening was insignificant after the implementation of general screening.
Mortality in major CHD decreased throughout the study, especially in the period with general prenatal screening. However, comparing a prenatally diagnosed group with a postnatally diagnosed group is vulnerable to selection bias and proper interpretation is difficult.
严重先天性心脏病（CHD）常需在新生儿期进行干预。产前诊断可以通过消除诊断延迟来提高死亡率；然而，其确切效果仍存在争议。我们旨在通过比较无普遍产前筛查时期与有普遍产前筛查时期，评估普遍产前筛查对预后的影响。
我们进行了一项全国性的回顾性研究，纳入了经产前诊断患有严重 CHD 的活产儿和终止妊娠胎儿。1996 年至 2004 年，仅对高危妊娠推荐进行产前筛查，而 2005 年至 2013 年则推荐进行普遍产前筛查。我们评估了普遍产前筛查对全因死亡率、心脏性死亡、术前和术后 30 天死亡率以及并发症发生率的影响。
两个时期的 1 年死亡率均有所下降，但筛查期的下降幅度更大（优势比 0.92（95%置信区间 0.83-1.00），p=0.047）。在无普遍筛查时期，产前发现严重 CHD 与心脏性死亡相关（风险比 2.40（95%置信区间 1.72-3.33），p<0.001），而在实施普遍筛查后，两者之间没有显著关联。同样，在无普遍筛查时期，产前诊断与术前和术后死亡率之间的关联在实施普遍筛查后也变得不显著。
研究期间严重 CHD 的死亡率有所下降，尤其是在有普遍产前筛查时期。然而，将产前诊断组与产后诊断组进行比较易受选择偏倚影响，因此难以进行正确解释。
