title: Prenatal detection of structural cardiac defects and presence of associated anomalies: a retrospective observational study of 1262 fetal echocardiograms.
abstract: OBJECTIVE
  The aim of this study is to document the detection of fetal congenital heart defect (CHD) in relation to the following: (1) indication for referral, (2) chromosomal and (3) extracardiac abnormalities.
  
  
  METHODS
  All fetal echocardiograms performed in our institution from 2007 to 2011 were reviewed retrospectively. Indication for referral, cardiac diagnosis based on the World Health Organization International Classification of Diseases tenth revision criteria and the presence of chromosomal and extracardiac defects were recorded.
  
  
  RESULTS
  Of 1262 echocardiograms, 287 (22.7%) had CHD. Abnormal anatomy scan in pregnancies originally considered to be at low risk of CHD was the best indicator for detecting CHD (91.2% of positive cardiac diagnoses), compared with other indications of family history (5.6%) or maternal medical disorder (3.1%). Congenital anomalies of the cardiac septa comprised the largest category (n = 89), within which atrioventricular septal defects were the most common anomaly (n = 36). Invasive prenatal testing was performed for 126 of 287 cases, of which 44% (n = 55) had a chromosomal abnormality. Of 232 fetuses without chromosomal abnormalities, 31% had an extracardiac defect (n = 76).
  
  
  CONCLUSIONS
  Most CHDs occur in pregnancies regarded to be at low risk, highlighting the importance of a routine midtrimester fetal anatomy scan. Frequent association of fetal CHD and chromosomal and extracardiac pathology emphasises the importance of thorough evaluation of any fetus with CHD.
authors: UCD Obstetrics and Gynaecology, School of Medicine and Medical Science, National Maternity Hospital, University College Dublin, Dublin, Ireland.|Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland.
authors: Fionnuala
authors: F
authors: Mone
authors: Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland.
authors: Colin
authors: C
authors: Walsh
authors: Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland.
authors: Cecelia
authors: C
authors: Mulcahy
authors: Department of Paediatric Cardiology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
authors: Colin J
authors: CJ
authors: McMahon
authors: UCD Obstetrics and Gynaecology, School of Medicine and Medical Science, National Maternity Hospital, University College Dublin, Dublin, Ireland.
authors: Sinead
authors: S
authors: Farrell
authors: UCD Obstetrics and Gynaecology, School of Medicine and Medical Science, National Maternity Hospital, University College Dublin, Dublin, Ireland.
authors: Aoife
authors: A
authors: MacTiernan
authors: CSTAR, School of Public Health, Physiotherapy and Population Science, University College Dublin, Dublin, Ireland.
authors: Ricardo
authors: http://orcid.org/0000-0002-3547-6733
authors: R
authors: Segurado
authors: Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland.
authors: Rhona
authors: R
authors: Mahony
authors: Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland.
authors: Shane
authors: S
authors: Higgins
authors: Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland.
authors: Stephen
authors: S
authors: Carroll
authors: Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland.
authors: Peter
authors: P
authors: McParland
authors: UCD Obstetrics and Gynaecology, School of Medicine and Medical Science, National Maternity Hospital, University College Dublin, Dublin, Ireland.|Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland.
authors: Fionnuala M
authors: FM
authors: McAuliffe
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18 / Q000000981:diagnostic imaging / Q000235:genetics; D015331:Cohort Studies; D004314:Down Syndrome / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics; D004452:Echocardiography; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D006343:Heart Septal Defects / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D011247:Pregnancy; D012017:Referral and Consultation; D012189:Retrospective Studies; D014314:Trisomy / Q000235:genetics; D000073842:Trisomy 18 Syndrome; D016216:Ultrasonography, Prenatal