Prognosis following prenatal diagnosis of heart malformations

Our objective was to document the prognosis of cases with fetal heart malformations (FHM). Forty-two fetuses assessed both in a regional fetal medicine and paediatric cardiology unit were classified prenatally into isolated FHM or those associated with extra-cardiac structural or karyotypic anomalies (ECA) and this classification was not changed subsequently (analogous to an intention to treat analysis). The end points studied included chromosomal abnormality, pregnancy outcome and follow-up at one year of age. FHM were isolated in 16 (38%) and associated with ECA in 26 (62%) of cases. The karyotypic abnormality rate was 8/42 (19%) overall and 8/26 (31%) in ECA cases. The pregnancy outcome included termination of pregnancy in 19 (45%), intrauterine death of two (5%) and live birth in 21 (50%). 12/16 (75%) of isolated FHM cases were live born compared with 9/26 (35%) of ECA cases (P < 0.03). Of the isolated FHM live born babies, 8/12 (67%) were alive at the end of the first year and seven of these were growing normally and did not require cardiac medication. However, a considerable proportion of their first year was spent in hospital (median 8%, interquartile range 5-10). Only one of nine ECA live born cases was alive but with poor growth and dependence on cardiac drugs at one year. These data confirm previous findings in prenatal diagnosis series that the prognosis for FHM is worse than that reported in studies of congenital heart disease at birth and is strongly dependent upon the presence of ECA. In their absence, outcome is better than previously published. Counselling must take place only after full fetal medicine assessment and should be based upon prenatal data.