Major congenital heart defects (mCHDs) affect 0.2% of pregnancies and represent serious structural abnormalities that typically require surgical or catheter-based intervention during infancy. While these conditions are associated with significant morbidity and mortality, prenatal diagnosis improves outcomes for affected children through earlier planning and their parents via more informed counseling. Detection rates (DRs) have improved over time with advances in ultrasound technology, standardized screening, and provider training, though DRs on a national level remain underinvestigated. Denmark’s implementation of universal publicly funded prenatal ultrasound screening in 2004 and centralization of pediatric cardiac care with national interdisciplinary collaboration in 2016 make it a strong model. This study evaluated the effectiveness of this national screening program by examining prenatal detection rates, incidence, pregnancy outcomes, and postnatal mortality associated with mCHD. This nationwide cohort study included all fetuses and infants in Denmark with suspected or confirmed mCHD and an expected delivery date between 2018 and 2022, including both live births and terminated pregnancies. Data were pulled from national prenatal screening databases and surgical records. Individuals were excluded if they were not screened in Denmark, had coarctation of the aorta without the need for surgical intervention, or had incomplete outcome records. Denmark’s universal screening program offers standardized first- and second-trimester ultrasounds, including mandatory cardiac views, with more than 95% participation. Suspected cases are referred to specialized centers for confirmation and management through a national interdisciplinary network. The primary outcome was prenatal detection rate, with secondary outcomes including termination rate, livebirth incidence, surgical timing, and postnatal mortality. A total of 602 cases of mCHDs were included, with an overall prenatal DR of 82.6% at a median gestational age of 20 weeks and 3 days. Prenatal identification was highest for univentricular heart (99.4%) and lowest for total anomalous pulmonary venous return (7.7%). Overall, 43.4% of the pregnancies affected by mCHD were terminated. Termination was more common when genetic abnormalities (72.2%) or extracardiac anomalies (75.3%) were present. Among the 326 liveborn infants, the incidence of mCHD was 1.1 per 1000 births, and most (92.0%) required surgical intervention, often within the first month of life. Postnatal mortality was 9.8%, with approximately half of the deaths occurring before surgery and variable rates based on the type of mCHD diagnosed. The findings support the effectiveness of Denmark’s universal prenatal screening program and centralized pediatric cardiothoracic care in prenatal detection of mCHDs and subsequent improved outcomes. The prenatal detection rate was high at 82.6%, possibly reflecting improvements in standardized ultrasound protocols, specialized training, and multidisciplinary coordination. The liveborn incidence of genetic heart defects declined to 1.1 per 1000 births compared with prior national estimates. Termination of pregnancy occurred in over half of prenatally detected cases, particularly among severe defects or those with associated genetic or extracardiac abnormalities, showcasing the effect of early diagnosis in informed decision-making. Among liveborn infants, most underwent timely surgical intervention, and postnatal mortality remained below 10%, representing improved survival compared with historical cohorts. Together, these findings demonstrate that comprehensive prenatal screening and centralized specialized care can enhance early diagnosis, guide perinatal management, and improve survival in children with mCHDs. (Summarized from Vedel C, Steensberg J, Petersen OB, et al. Prenatal detection and outcome of major heart defects in a country with universal screening. Ultrasound Obstet Gynecol. 2025. doi: 10.1002/uog.70107)
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Christina S. Han
Obstetrical & Gynecological Survey
University of California, Los Angeles
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Christina S. Han (Wed,) studied this question.
www.synapsesocial.com/papers/69d8968f6c1944d70ce08005 — DOI: https://doi.org/10.1097/ogx.0000000000001526