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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.
Pediatrics
|September 21, 2023
Summary
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.
