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Screening for Critical Congenital Heart Defects in Sweden
Katarina Lannering1,2, Kalliopi Kazamia3,4, Gunnar Bergman3,4
1Region Västra Götaland, Children's Heart Center, Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.
Insights
Early diagnosis of critical congenital heart defects (CCHD) is crucial. Pulse oximetry screening (POS) and physical exams complement prenatal screening, but 10% of CCHD infants are discharged undiagnosed, highlighting coarctation as a key concern.
Area of Science:
- Neonatal screening
- Pediatric cardiology
- Public health
Background:
- Early diagnosis of critical congenital heart defects (CCHD) significantly improves infant survival rates.
- Prenatal detection of CCHD has increased, necessitating an evaluation of current screening methods.
- Pulse oximetry screening (POS) has been a national standard in Sweden since 2013.
Purpose of the Study:
- To assess the combined effectiveness of prenatal ultrasound, neonatal pulse oximetry screening (POS), and neonatal physical examination (NPE) in the early detection of CCHD.
- To determine the diagnostic contributions of each screening method in the context of evolving CCHD detection strategies.
- To identify infants with CCHD who are discharged without a diagnosis before hospital discharge.
Main Methods:
- A retrospective, nationwide, population-based study was conducted in Sweden.
- Infants born between 2014 and 2019 with CCHD were identified.
- CCHD was defined as a congenital heart defect requiring intervention or resulting in death within 28 days of birth.
Main Results:
- 89% of 630 infants with CCHD were diagnosed before discharge or death.
- Prenatal diagnosis accounted for 42%, POS for 23%, and NPE for 14% of early detections.
- 10% of infants with CCHD were discharged undiagnosed, with coarctation being the most prevalent defect (30% undiagnosed).
Conclusions:
- Neonatal pulse oximetry screening (POS) and physical examination (NPE) are vital complements to prenatal ultrasound for CCHD detection.
- A significant proportion (10%) of infants with CCHD are discharged without a diagnosis, particularly those with coarctation.
- Future CCHD screening research should prioritize improving the detection of coarctation.
Objectives:
Early diagnosis of critical congenital heart defects (CCHD) improves survival. We evaluated the relative contributions of prenatal ultrasound, neonatal pulse oximetry screening (POS), and neonatal physical examination (NPE) to the early detection (before discharge) of CCHD in the context of increasing prenatal detection, and POS being a national standard since 2013.
Methods:
Retrospective, nationwide population-based study. All full-term live-born infants with CCHD in Sweden between 2014 and 2019 were included. CCHD was defined as a congenital heart defect requiring surgery or catheter-based intervention or resulting in death within 28 days of birth.
Results:
Of 630 infants, 89% were diagnosed before discharge or death, 42% prenatally, 11% from early symptoms, 23% by POS, and 14% from NPE after a negative POS. Four (0.6%) died undiagnosed before discharge and 64/630 (10%) were discharged undiagnosed, with 24/64 being readmitted with circulatory failure and causing 1 preoperative death. Coarctation was the most prevalent CCHD (N = 184), 25% of whom were detected prenatally (12% by POS and 29% by NPE). Two died undiagnosed before discharge and 30% were discharged undiagnosed. Transposition was the second most common defect (N = 150) and 43% were detected prenatally (33% by POS, 1 by NPE) and 2 died undiagnosed before POS. None was discharged undiagnosed.
Conclusions:
POS and NPE remain important for the early detection of CCHD complementing prenatal ultrasound screening. Nevertheless, 1 in 10 with CCHD leaves the hospital without a diagnosis, with coarctation being the predominant lesion. Future research on CCHD screening should have a particular focus on this cardiac defect.
