title: Delayed diagnosis of critical congenital heart defects: trends and associated factors.
abstract: OBJECTIVE
  We aimed to examine trends in timing of diagnosis of critical congenital heart defects (CCHDs) and factors associated with delayed diagnosis (diagnosis after discharge home following delivery).
  
  
  METHODS
  We examined a population-based retrospective cohort of CCHD cases among live births identified through the Massachusetts Birth Defects Monitoring Program. Congenital heart defects were considered critical if the infant received corrective surgery, interventional catheterization, palliative care, or died as a result of the defect within 12 months of birth. Timing of initial diagnosis was classified as prenatal, postnatal before discharge home, or delayed. Demographic, perinatal, and mortality information was obtained from the Registry of Vital Records and Statistics. Prevalence ratios (PRs) were used to examine associations with delayed diagnosis.
  
  
  RESULTS
  Among 460 467 live births to Massachusetts residents between 2004 and 2009, we identified 916 CCHD cases, of which 126 (13.8%) had delayed diagnosis. Rates of prenatal CCHD diagnosis increased from 44.9% in 2004 to 63.8% in 2009, whereas rates of delayed diagnosis decreased from 17.1% to 10.6% over the same time period. Among cases with delayed diagnosis, the most common defects were coarctation, pulmonary valve stenosis, and tetralogy of Fallot. Delayed diagnosis was associated with delivery outside a tertiary hospital (adjusted PR: 3.6 [95% confidence interval: 2.5-5.2]) and isolated CCHD (adjusted PR: 1.7 [95% confidence interval: 1.1-2.7]).
  
  
  CONCLUSIONS
  Despite increasing prenatal diagnosis of CCHDs, delayed diagnosis still occurs in over 10% of cases. Understanding factors associated with delayed diagnosis could help to improve prenatal and postnatal screening efforts, including pulse oximetry testing.
authors: Massachusetts Department of Public Health, Boston, Massachusetts; rebecca.liberman@state.ma.us.
authors: Rebecca F
authors: RF
authors: Liberman
authors: Massachusetts Department of Public Health, Boston, Massachusetts;
authors: Kelly D
authors: KD
authors: Getz
authors: MassGeneral Hospital for Children, Boston, Massachusetts;
authors: Angela E
authors: AE
authors: Lin
authors: Massachusetts Department of Public Health, Boston, Massachusetts;
authors: Cathleen A
authors: CA
authors: Higgins
authors: Boston Medical Center, Boston, Massachusetts; and.
authors: Sepehr
authors: S
authors: Sekhavat
authors: Baystate Medical Center, Springfield, Massachusetts.
authors: Glenn R
authors: GR
authors: Markenson
authors: Massachusetts Department of Public Health, Boston, Massachusetts;
authors: Marlene
authors: M
authors: Anderka
mesh_terms: D001017:Aortic Coarctation / Q000175:diagnosis; D016638:Critical Illness; D057210:Delayed Diagnosis / Q000706:statistics & numerical data* / Q000639:trends; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000453:epidemiology / Q000401:mortality; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008404:Massachusetts / Q000453:epidemiology; D015997:Neonatal Screening; D010092:Oximetry; D011296:Prenatal Diagnosis; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis; D012044:Regression Analysis; D013771:Tetralogy of Fallot / Q000175:diagnosis
keywords: critical congenital heart defects; delayed diagnosis; infant; neonatal; neonatal screening; newborn; prenatal diagnosis