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Screening for Critical Congenital Heart Defects in Sweden

Lannering, Katarina ; Kazamia, Kalliopi ; Bergman, Gunnar ; Ostman-Smith, Ingegerd ; Liuba, Petru LU ; Dahlqvist, Jenny Alenius ; Elfvin, Anders and Mellander, Mats (2023) In Pediatrics 152(4).
Abstract

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%... (More)

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 5 184), 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 5 150) 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.

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organization
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Contribution to journal
publication status
published
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in
Pediatrics
volume
152
issue
4
article number
e2023061949
publisher
American Academy of Pediatrics
external identifiers
  • pmid:37732389
  • scopus:85173743772
ISSN
0031-4005
DOI
10.1542/peds.2023-061949
language
English
LU publication?
yes
id
89363a8e-08ab-4866-9dc3-f68aedb44119
date added to LUP
2024-01-11 15:06:51
date last changed
2024-04-12 08:57:50
@article{89363a8e-08ab-4866-9dc3-f68aedb44119,
  abstract     = {{<p>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 5 184), 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 5 150) 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.</p>}},
  author       = {{Lannering, Katarina and Kazamia, Kalliopi and Bergman, Gunnar and Ostman-Smith, Ingegerd and Liuba, Petru and Dahlqvist, Jenny Alenius and Elfvin, Anders and Mellander, Mats}},
  issn         = {{0031-4005}},
  language     = {{eng}},
  number       = {{4}},
  publisher    = {{American Academy of Pediatrics}},
  series       = {{Pediatrics}},
  title        = {{Screening for Critical Congenital Heart Defects in Sweden}},
  url          = {{http://dx.doi.org/10.1542/peds.2023-061949}},
  doi          = {{10.1542/peds.2023-061949}},
  volume       = {{152}},
  year         = {{2023}},
}