Audit of 10 years of referrals for fetal echocardiography.

Objectives: To evaluate trends over time, indications, diagnoses, noncardiac defects and outcome of fetuses referred for tertiary level echocardiography.

Methods: Retrospective study of fetal echocardiograms performed between April 1999 and 2009.

Results: 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.

Conclusions: 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.