Premium
F129Prenatal diagnosis of conotruncal anomalies: associated defects and chromosomal abnormalities
Author(s) -
Galindo A.,
Grañeras A.,
GutiérrezLarraya F.,
Regojo F.,
Carrera M.,
De La Fuente P.
Publication year - 2000
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2000.00015-1-128.x
Subject(s) - medicine , great arteries , truncus arteriosus , double outlet right ventricle , pulmonary atresia , interrupted aortic arch , tetralogy of fallot , coarctation of the aorta , incidence (geometry) , cardiology , fetal echocardiography , prenatal diagnosis , aorta , ventricle , fetus , aortic arch , heart disease , pregnancy , physics , biology , optics , genetics
Aim To evaluate the incidence, type, associated defects and chromosomal abnormalities of fetuses with conotruncal anomalies (CTA). Methods Retrospective study of CTA prenatally diagnosed between Jan.1998–May 2000. Results 46 CTA was diagnosed and the number of congenital heart defects (CHD) diagnosed in the period reviewed was 154; therefore, CTA accounts for 30% of CHD. In this period there were 13 236 deliveries; thus, incidence of CTA was 3.5% and of CHD was 1.2%. The chromosomal defects (CRD) rate in CTA was 28% (13 cases): 5 CATCH 22, 3 Tr.13 (23%), 2 Tr. 18 (15%), 1 Tr.7 (8%), 1 45XO (8%), 1 triploidy (8%). Associated defects were diagnosed in 17 cases (37%), and 10 of these had a CRD (59%). CTA pernatally diagnosed distribution was as follows: 12 tetraology of fallot (26%), with 4 CRD (33%): 1 Catch 22, 1 Tr.13, 1 Tr.7 and 1 triploidía; 9 double‐outlet right ventricle (20%), with 2 CRD (22%): 2 Tr.18; 8 transposition of great arteries (17%) without CRD; 6 coarctation of aorta (13%), with 1 CRD (17%): 45XO; 6 truncus arteriosus (13%) with 5 CRD (83%): 4 Catch 22 and 1 Tr.13; 4 pulmonary atresia (9%), with 1 Cr (25%): Tr.13 and finally 1 interrupted aortic arch (2%), without CRD. In 4 out of the 5 cases of catch‐22 additional anatomic defects were prenatally observed (80%). Conclusions CTA accounts for a high number of CHD prenatally diagnosed. Therefore, extended fetal echocardiographic examination is of paramount importance to detect prenatally CTA. Associated defects and chromosomal abnormalities are common. Thus, analysis of fetal karyotype must be performed mainly in cases of tetralogy of Fallot, truncus, arteriousus, double‐outlet right ventricle and pulmonary atresia.