This retrospective multicenter study represents an analysis of the int
rauterine determinants of the prognosis for conotruncal anomalies. Dat
a regarding reason for referral, presence of chromosomal or extracardi
ac anomalies, pregnancy and surgical outcome were recorded in 67 cases
of conotruncal anomalies from three Italian referral units. Chromosom
al aberrations affected 11 of the 60 (18.3%) fetuses in which a karyot
ype was available. Extra-cardiac malformations were present in 25/67 c
ases (37.3%). No chromosomal anomalies were present in fetuses with co
mplete or corrected transposition of the great arteries. However, tetr
alogy of Fallot and double-outlet right ventricle were associated with
chromosomal anomalies in 22% and 38% of cases, respectively, and with
extracardiac anomalies in 45% and 46% of cases, respectively. Only 20
of the 67 (31%) cardiac malformations were associated with an abnorma
l four-chamber view. There were 28 (41.7%) terminations of pregnancy,
six (8.9%) intrauterine deaths and 16 (23.8%) neonatal deaths. Sevente
en neonates (25.3%) are currently alive, and 15 of these have undergon
e reparative surgery. The prognosis of conotruncal anomalies is poorer
when the condition is diagnosed in utero. This is mainly due to the f
requent association with chromosomal and/or extra-cardiac anomalies, o
ften leading to intrauterine or early neonatal death.