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Prenatal detection of congenital heart disease - results of a Swedish screening program 2013-2017
Maya Waern1, Mats Mellander2,3, Anton Berg3
1Department of Obstetrics and Gynecology, Region Västra Götaland, Sahlgrenska University Hospital, Diagnosvägen 15, Paviljong 7b, 416 85, Gothenburg, Sweden.
Insights
Prenatal screening improved congenital heart defect detection in Sweden, with 56% of critical defects diagnosed before birth. Further training is needed for outflow tract examinations to enhance early diagnosis rates.
Area of Science:
- Medical screening programs
- Fetal cardiology
- Congenital heart defect diagnosis
Background:
- Evaluation of a prenatal screening program for congenital heart defects (CHDs) in Western Sweden.
- Study period: January 1, 2013, to June 31, 2017, with 88,230 births in the Västra Götaland region (VGR).
Purpose of the Study:
- To assess the prenatal detection rates of major and critical congenital heart defects.
- To evaluate the impact of implementing standardized guidelines (ISUOG) on detection rates.
- To identify areas for improvement in fetal cardiac screening protocols.
Main Methods:
- Retrospective analysis of data from pregnant women referred to fetal cardiologists in Gothenburg.
- Inclusion criteria: Neonates with critical CHDs requiring surgery or catheter intervention (born 2014-2016).
- Review of the implementation of the four-chamber view (2009) and ISUOG guidelines (2015).
Main Results:
- 56% of critical CHDs were detected prenatally (2014-2016), a significant increase from 13.8% in 2009.
- Detection rates varied by defect type: 100% for single ventricle defects, 9% for transposition of great arteries, 18% for coarctation of the aorta.
- Prenatal diagnosis was higher (82%) for CHDs with extracardiac/chromosomal abnormalities compared to isolated CHDs (50%).
Conclusions:
- Improved prenatal screening protocols have significantly increased the detection rate of major congenital heart defects.
- Current screening effectively detects four-chamber view abnormalities but requires enhanced training for outflow tract assessments.
- Further refinement of screening protocols is necessary to optimize early diagnosis of all critical CHDs.
Background:
This report evaluates results of a screening program on prenatal detection of congenital heart defects in a geographical cohort of western Sweden between January 1st, 2013 and June 31st, 2017. During the study period 88,230 children were born in VGR.
Methods:
Retrospective data on pregnant women from the Västra Götaland region that were referred to fetal cardiologists in Gothenburg were retrieved. To determine prenatal detection rate, all neonates who underwent surgery or catheter intervention for a critical congenital heart defect born between January 1st, 2014 and December 31st, 2016 were included. The four-chamber view was implemented into the routine scan in 2009 and implementation of the ISUOG guidelines, including the outflow tracts, started in the region in 2015.
Results:
113 fetuses received a prenatal diagnosis of a major congenital heart defect. 89% of these were referred because of a suspected cardiac malformation and 88% were diagnosed before 22 completed weeks. 59% of the patients diagnosed before 22 completed weeks opted for termination of pregnancy. During 2014-2016, 61 fetuses had a prenatal diagnosis of a critical congenital heart defect and a further 47 were diagnosed after birth, hence 56% were diagnosed prenatally, 82% for those which had a combination with an extracardiac abnormality and/or chromosomal aberration compared to 50% if an isolated critical congenital heart defect was diagnosed. For single ventricle cardiac defects such as hypoplastic left heart syndrome, double inlet left ventricle and tricuspid atresia, the detection rate was 100%. The detection rate for transposition of the great arteries and coarctation of the aorta was 9 and 18% respectively.
Conclusions:
56% of all fetuses with a critical congenital heart defect were diagnosed prenatally during 2014-2016 and approximately 53% of all major congenital heart defects 2013-2017 as compared to 13.8% in 2009 in the same region. An increased focus towards the fetal heart in the routine scan improved the prenatal detection rate of major congenital heart defects. The detection of congenital heart defects affecting the four-chamber view seems sufficient, but more training is needed to improve the quality of the examination of the outflow tracts.

