Barriers to prenatal detection of congenital heart disease: a population-based study

  • Pinto N
  • Keenan H
  • Minich L
 et al. 
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Objective To evaluate the extent and determinants ofmissed prenatal detection of congenital heart disease(CHD) in a population-based setting.Methods This was a retrospective cohort study of caseswith CHD, excluding minor defects, identified between1997 and 2007 by a statewide surveillance program.We examined a comprehensive list of potential risk fac-tors for which data were available in the surveillancedatabase from abstracted medical charts. We analyzedthe association of fetal, maternal and encounter factorswith 1) whether a prenatal ultrasound was performed and2) prenatal detection of CHD.Results CHD was detected prenatally in only 39% of1474 cases, with no improvement in detection rate overthe 10-year period. Among the 97% (n = 1431) of moth-ers who underwent one or more ultrasound examinations,35% were interpreted as abnormal; fetal echocardiogra-phy was performed in 27% of the entire cohort. Maternaland encounter factors increasing the adjusted odds ofprenatal detection included: family history of CHD (OR,4.3 (95% CI, 1.9–9.9)), presence of extracardiac defects(OR, 2.7 (95% CI, 1.9–3.9)) and ultrasound location i.e.high risk clinic vs clinic (OR, 2.1 (95% CI, 1.3–3.1)).Defects that would be expected to have an abnormaloutflow-tract view were missed more often (64%) thanwere those that would be expected to have an abnormalfour-chamber view (42%).Conclusion The majority of CHD cases over the 10-year study period were missed prenatally and detectionrates did not increase materially during that time. Thefailure to detect CHD prenatally was related to encountercharacteristics, specifically involving screening ultrasoundexaminations, which may be targeted for improvement.

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  • N. M. Pinto

  • H. T. Keenan

  • L. L. Minich

  • M. D. Puchalski

  • M. Heywood

  • L. D. Botto

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