Abstract

Background: Authors analyse an association of prenatal diagnosis of AVSD with genetic syndromes, extracardiac malformations or heterotaxy syndromes and neonatal follow-up.Material/Methods: Sixteen cases of atrioventricular septal defect (AVSD) detected prenatally were ascertained between 2000–2003.Results: Mean gestational age of the first echo exam was 27.3 weeks (range from 18–38 wks). Five (31%) fetuses were referred because of abnormal 4-chamber view. Ten (63%) mothers were from low-risk group. We divided fetuses into two groups: I – different types of AVSD, II – heterotaxy syndromes (HS). Group I consisted of: balanced AVSD – 10; unbalanced – 1 (with LV dominance);AVSD with tetralogy of Fallot (ToF) – 1, AVSD with coarctation of aorta (CoA). Group II – 3: left atrial isomerism – 2; right atrial isomerism – 1. Extracardiac malformations were found in 6 fetuses in both groups. All HS fetuses had normal karyotype; in one case complete heart block was noted, in 2 cases – other arrhythmias. There were 12 (92%) fetuses with chromosomal anomalies in the group I: 7 – trisomy 21; 4 – trisomy 18; 1 – trisomy 13. In the group I: intrauterine demise (IUD) was in 1 case. Neonatal or infant deaths occurred in 6 cases. There were 6 survivors (4 after cardiac surgery, 1 before cardiac surgery and 1 pregnancy is lasting). In the group II: neonatal or infant death occurred in 2 cases; there was 1 survivor (after cardiac surgery). Survival rate was 46% in the group I, and 33% in the group II.Conclusions: 1. Majority of fetuses with AVSD was not referred for fetal echo due to abnormal 4-chamber view, but most of all were from low-risk group. 2. Prenatal karyotyping is necessary when AVSD is diagnosed because of high association with chromosomal anomalies. 3. In cases when other ultrasound markers of chromosomal abnormalities were not found, fetuses with HS can be excludedfrom prenatal karyotyping. The low survival rate in examined group of fetuses with AVSD could be associated with high coexistence of cardiac defect with chromosomal and extracardiac malformations.

Keywords: heterotaxy syndrome, chromosomal abnormalities, Prenatal Diagnosis, atrioventricular canal