ArticleHeart (British Cardiac Society)2006
Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome.
Article in Heart (British Cardiac Society), 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- The prognosis of common arterial trunk from a fetal perspective: A prenatal cohort study and systematic literature review.Prenatal diagnosis · 2021Pooled it
- Pooled it
- The Three-Y and Trachea View (3Y + T): A Conceptual Extension of the Three-Vessel and Trachea View for Comprehensive Fetal Echocardiographic Assessment.Diagnostics (Basel, Switzerland) · 2026Review
- Multimodality Imaging of the Neglected Valve: Role of Echocardiography, Cardiac Magnetic Resonance and Cardiac Computed Tomography in Pulmonary Stenosis and Regurgitation.Journal of imaging · 2022Review
- Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Prenatal Diagnosis of Pulmonary Atresia With Ventricular Septal Defect and an Aberrant Ductus Arteriosus in a Dextrocardia by Two- and Three-Dimensional Echocardiography: A Case Report.Frontiers in medicine · 2022Article
- Accuracy of Fetal Echocardiography in Defining Pulmonary Artery Anatomy and Source of Pulmonary Blood flow in Pulmonary Atresia with Ventricular Septal Defect (PA/VSD).Pediatric cardiology · 2021Article
- Outcome after surgery for pulmonary atresia with ventricular septal defect, a long-term follow-up study.Acta paediatrica (Oslo, Norway : 1992) · 2021Article
- Prenatal diagnosis of tetralogy of Fallot with pulmonary atresia using: Fetal Intelligent Navigation Echocardiography (FINE).The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2019Article
- Three-dimensional visualisation of the fetal heart using prenatal MRI with motion-corrected slice-volume registration: a prospective, single-centre cohort study.Lancet (London, England) · 2019Article
- Prenatal diagnosis of pulmonary atresia with ventricular septal defect.Journal of medical ultrasonics (2001) · 2018Article
- Development of major aorto-pulmonary collateral arteries in vegf120/120 isoform mouse embryos with tetralogy of fallot.Pediatric cardiology · 2015Article
- Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease.International journal of cardiology · 2008Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess the accuracy of prenatal diagnosis, the association with genetic and extracardiac anomalies, and outcome in fetuses with isolated pulmonary atresia with ventricular septal defect (PA-VSD). DESIGN AND
settingRetrospective study in a tertiary centre for fetal cardiology. PATIENTS AND OUTCOME MEASURES: Echocardiographic video recordings of 27 consecutive fetuses with PA-VSD were reviewed for: (1) intracardiac anatomy; (2) presence of confluence and size of the branch pulmonary arteries; (3) source of pulmonary blood supply; and (4) side of the aortic arch. Postmortem and postnatal data were added. Karyotyping was performed in 25 patients and, in 23 of these, fluorescent in situ hybridisation to identify 22q11.2 deletion.
resultsPA-VSD was correctly diagnosed in 19 of 21 patients (90%) with postnatal or autopsy confirmation of diagnosis. Central pulmonary arteries were correctly identified in 79% (15/19), the source of pulmonary blood supply in 62% (13/21) and major aortopulmonary collateral arteries in 44% (4/9). Aneuploidy was detected in 4 of 25 patients (16%) and 22q11.2 deletion in 6 of 23 patients (26%). Five of 27 patients (19%) had extracardiac anomalies. Eleven pregnancies were interrupted. Eleven of 16 liveborn babies survived. Neonatal survival was 15 of 16 (94%, 95% confidence interval (CI) 70 to 100), one-year survival was 9 of 12 (75%, 95% CI 43 to 95) and two-year survival was 5 of 9 (56%, 95% CI 21 to 86).
conclusionPA-VSD can be diagnosed by fetal echocardiography with a high degree of accuracy. However, it can be difficult to determine the morphology of the central pulmonary arteries and to locate the source of pulmonary blood supply. In most liveborn infants, complete surgical repair can be achieved.
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