Diagnosis, characterization and outcome of ccTGA

Diagnosis, characterization and outcome of congenitally
corrected transposition of the great arteries in the fetus:
a multicenter series of 30 cases
D. PALADINI*, P. VOLPE†, M. MARASINI‡, M. G. RUSSO§, M. VASSALLO*, M. GENTILE¶,and R. CALABR ` O§
*Fetal Cardiology Unit, Department of Gynecology and Obstetrics, University Federico II of Naples and §Department of Pediatric Cardiology, 2nd University of Naples, Monaldi Hospital, Naples, †Department of Obstetrics and Gynecology, ‘‘Di Venere-Giovanni XXIII’’ Hospital and ¶Department of Medical Genetics, I.R.C.C.S. ‘‘Di Venere-Giovanni XXIII’’ Hospital, Bari and ‡Pediatric Cardiology,
I.R.C.C.S. Giannina Gaslini Hospital, Genoa, Italy

ABSTRACT

Objective To describe the anatomy, associated anomalies
and outcome of 30 cases of congenitally corrected
transposition of the great arteries (ccTGA) detected
prenatally.
Methods This was a retrospective observational study of
the 30 cases of ccTGA confirmed at autopsy or postnatal
echocardiography seen at one of three referral centers
from 1994 to 2003. The following data were considered:
gestational age at diagnosis, cardiac anatomy, associated
cardiac and extracardiac anomalies and fetoneonatal
outcome. All fetuses underwent fetal echocardiography
and a detailed anomaly scan, with follow-up scans at 3–4-
week intervals until delivery. The diagnosis was confirmed
at autopsy or after delivery. Follow-up data were retrieved
from the clinical files of the patients.
Results The mean gestational age at diagnosis was
25.5 weeks. Intracardiac defects associated with the
ccTGA included a ventricular septal defect in 21 cases,
pulmonary outflow obstruction in 12 cases, an abnormal
tricuspid valve in 10 cases, ventricular hypoplasia in five
cases and dextro/mesocardia in five cases. The karyotype
was normal in all 24 newborns, and unknown in the
cases which resulted in termination of pregnancy (n = 5)
or intrauterine death (n = 1). There were associated
extracardiac anomalies in four cases only. Three of the
four cases of atrioventricular block (AV block) developed
in the third trimester, while the fourth appeared after
birth. There were nine deaths (five terminations, two
perinatal deaths and two infant deaths). The remaining
21 (70%) newborns were alive at a median follow-up
time of 32 months, 11 of them after various surgical
procedures.
Conclusions Our data suggest that in fetuses with ccTGA
the risk of chromosomal and extracardiac anomalies is
low, in accordance with postnatal data. The spectrum of
associated cardiac lesions is consistent with that reported
in the pediatric literature. These data may be of use during
prenatal counseling since no figures regarding survival
and/or outcome of ccTGA in the fetus have been reported
so far. 

Copyright  2006 ISUOG. Published by John Wiley & Sons, Ltd.
Ultrasound Obstet Gynecol 2006; 27: 281–285

Published online in Wiley InterScience ()