Comparing risk factors associated with the late detection of critical congenital heart disease at different facility levels.

Aims: Critical congenital heart disease (CCHD) requires surgery or catheter intervention within the first year of life; delayed diagnoses result in worsened outcomes. In Japan, there are few reports of delayed CCHD diagnosis. We investigated the diagnoses and factors associated with the late detection of CCHD.

Methods: This retrospective cohort study evaluated 88 CCHD infants admitted to a level IV facility. We compared the late detection rates across facility levels of neonatal care and CCHD characteristics.

Results: Critical congenital heart disease was identified prenatally in 46 (52%) infants: early (≤3 days postnatally) in 29 (33%) and late (≥4 days postnatally) in 13 (15%). The oxygen saturation of 27 of 29 infants with early detection and 7 of 13 infants with late detection was measured using pulse oximetry within 3 days postnatally. Factors associated with the late detection of CCHD were lack of clinical recognition of symptoms in five infants, referral to higher-level facilities after discharge in four infants, and definitive diagnosis not confirmed using echocardiography in four infants. The most common factors associated with late detection were referral to higher-level facilities after discharge in level I facilities and definitive diagnosis not confirmed using echocardiography in level II facilities.

Conclusion: Critical congenital heart disease may require advanced knowledge and echocardiographic techniques for diagnosis. Pulse oximetry and telemedicine should also be incorporated in the diagnostic algorithm. Improvement in these factors might contribute to reducing the late detection of CCHD.