Timing of diagnosis and factors associated with delayed detection of structural birth defects in children: a multicenter cross-sectional study from Addis Ababa, Ethiopia.

BACKGROUND

Congenital birth defects contribute substantially to child mortality in the Global South. From the caregiver perspective, we aim to describe the timing of diagnosis of children with structural birth defects, where diagnosis is delayed, and the underlying reasons.

METHODS

A cross-sectional study of children with structural birth defects at three public hospitals in Addis Ababa was conducted using caregiver interviews and clinical chart review. Data were analyzed using SPSS V.26. Binary and multivariable logistic regression was used to identify factors related to the delayed diagnosis.

RESULTS

Totally, 423 children with structural birth defects were enrolled; 358 (84.6%) were male. Median age at the time of data collection was 2.12 years (interquartile range (IQR), 0.8-5.0 years). Among 441 diagosed defects, the three most frequent structural birth defects were hypospadias (133, 30.2%), undescended testes (95, 21.5%), and anorectal malformation (38, 8.6%). Among 77 children with prenatally detectable defects, 32 were diagnosed antenatally. A total of 411 (97.2%) of the mothers had antenatal follow-up. Among 362 facility-born children with externally visible or clinically detectable defects, 104 (28.7%) were diagnosed before discharge. Overall, the diagnosis of a structural birth defect was delayed in 274 (64.8%) children. The main reasons for this delay were lack of awareness, delayed referral, and false reassurance by a health professional. Being delivered at a health center (p<0.001, adjusted odds ratio (aOR)=2.17) was associated with a delayed diagnosis.

CONCLUSION

There is a significant delay in diagnosing structural birth defects during both the antenatal and postnatal periods. These missed opportunities can be addressed through comprehensive screening programs, capacity-building sessions for healthcare workers, and raising public awareness.