Audit of 10 years of referrals for fetal echocardiography

Abstract

To evaluate trends over time, indications, diagnoses, noncardiac defects and outcome of fetuses referred for tertiary level echocardiography. Retrospective study of fetal echocardiograms performed between April 1999 and 2009. Of the 623 fetuses included, 301 (48%) had cardiac pathology. Congenital heart defects (CHDs) were found in 243/301 (81%), mostly in the severe spectrum. Of the fetuses with CHDs, 26% (63/243) had chromosomal anomalies. The chromosomally normal fetuses with CHDs had a mortality rate of 43% (77/180) and 23% (41/180) had extra-cardiac anomalies. The termination of pregnancy (TOP) rate for all cardiac pathology was 24.9% (75/301) and for CHDs 29.6% (72/243). The TOP rates for CHDs diagnosed before 19 and 24 weeks gestation were 61% (28/46) and 44% (68/155), respectively. An increase in referrals followed the introduction of a national screening program, (nuchal translucency (NT) and routine structural ultrasound screening). The main referral indication was an increased NT (>95th percentile; 32% of cases). CHDs were found in 81/239 (34%) fetuses with an increased NT. Referral indications for fetal echocardiography were appropriate (almost 50% had cardiac pathology). The mortality was high. Fetal outcome and TOP decisions correlated with CHD severity and presence of noncardiac defects. An increased NT is a strong marker for CHDs.