What Is the Effective Diagnostic Role of Pediatric Cardiac Assessment in the Offspring of Women With Congenital Heart Disease?: In Reply

We thank Bocelli et al for their letter regarding interpretation of the results of our study. They raise 3 specific concerns, which we will address as follows.Bocelli et al write that “caution is required when considering as effectively incremental the diagnostic information provided by a test in comparison with another when the 2 tests are not performed independently and in a blinded fashion.” Our study was designed to evaluate agreement, not superiority, between pediatric cardiac assessment (CA) and fetal echocardiography (FE) in those who had both investigations in the context of a prospective study. Independent and blinded interpretation, although ideal, was not mandatory because all children had both investigations. Potential biases from FE would affect CA results only if there is differential referral on the basis of the results of FE (which was not the case in our study). In fact, the Bocelli et al statement that “a negative FE finding usually does not affect interpretation of CA findings significantly” underscores the message of our study: that there is additional diagnostic utility to be gained from CA even when FE findings are normal.Bocelli et al go on to state that on the basis of the “low prevalence of children with positive FE and negative CA findings… compared with those with negative FE and positive CA findings,” interpretation of our results would result in a “spurious increase in sensitivity” and that “it could be estimated that specificity of FE alone was 97.6%[,]… whereas specificity of the approach combining FE and postnatal CA… was 90.9%.” As stated in the limitations section of our article, and as acknowledged by Bocelli et al, our study was not designed to evaluate sensitivity/specificity of FE versus FE and CA, because pediatric echocardiography was not routinely performed.Bocelli et al conclude that “taking into account that additional lesions detected by CA and missed by FE were all minor or noncomplex CHD, the opportunity to routinely perform FE followed by postnatal CA in the offspring of women with CHD should be critically considered.” Although the CHD detected by CA was noncomplex and, therefore, not likely to affect short-term survival, there are important implications regarding need for long-term cardiology follow-up as well as concerns regarding heritability of CHD to be considered at the time of future family planning.We thank Bocelli et al for their interest in our work; we believe that their concerns have been addressed adequately above. Ultimately, the decision to apply our research findings will be impacted by local practice patterns and resource availability, specifically with respect to availability of pediatric cardiologists and/or pediatric echocardiography.

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