Comparative analysis of pattern, management and outcome of pre-versus postnatally diagnosed major congenital heart disease: a population-based study

Objectives Most pregnant women in New South Wales undergo obstetric ultraso und examination, including some assessment of fetal cardiac anatomy. We aim ed to review the spectrum of cardiac defects, management and outcome data o f all fetuses with diagnosis of major congenital heart disease between 1994 and 1996 and compare them to major congenital heart disease in infants bor n during the same 3-year study period. Methods Descriptive comprehensive study of the New South Wales population. Study centers included the single fetal echocardiographic referral service and the two pediatric cardiac centers of New South Wales. Results Ninety-seven fetuses and 562 infants with major congenital heart di sease were identified (240 000 livebirths), resulting in a prenatal detecti on rate of 15%. Anomalies detectable by cardiac four-chamber views were dia gnosed at an average rate of 30% (68/229) in utero. By contrast, lesions as sociated with abnormal ventricular outflow and great artery views were dete cted in only, 6.7% (29/430; P < 0.0001) of cases prior to birth. Of the 97 fetuses, 29 were aborted, 16 died in utero, and 9 died early postnatally wi thout treatment. Within 2 weeks of age, 23% with fetal and 40% (P < 0.05) w ith infant major congenital heart disease diagnosis required an interventio n, mainly for patent ductus arteriosus dependent lesions. Postnatal surviva l was similar for the fetal and infant series up to 2 years of age: 77% (95 % confidence interval 64-90%) vs. 85% (95% confidence interval 82-88%). Conclusions Prenatal diagnosis has important implications for pregnancy out come, in particular for univentricular lesions. However, the present mode o f obstetric routine ultrasound scanning fails to identify most ductus arter iosus dependent cardiac lesions with a predictable need for early postnatal intervention.