Genetic counseling in cardiac anomalies

Abstract

Introduction: CATCH 22 syndrome is a well known developmental congenital syndrome. The most frequent genetic syndrome is velocardiofacial syndrome due to a microdeletion on chromosome 22ql 1.2. It is associated with abnormalities in heart, brain, thymus and parathyroid glands with an increased risk of immunodeficiency. The aim of this study was to estimate the prevalence of fetal cardiac anomalies in the first trimester of pregnancy in pregnant women with high degree of genetic risk. Methods: We analyzed data regarding ultrasound examination, the nuchal translucency, visualization of the four-chamber view, the outflow tracts, double test measured in first trimester of pregnancy, in 128 pregnant women who have been investigated for medico-genetic counseling in 2009-2010. Results: In 44 (34,4%) pregnant women (average age 26,1 ± 5,3 years) was estimated medium degree of genetic risk, in 30 (23,4%) - high risk and in 54 (42,2%) - low risk. Prenatal diagnosis has contributed to the identification of severe fetal pathologies in 16 (12,5%) pregnant women. The most common cardiac defects included 6 atrial and 2 ventricular septum defects (37,5% and 12,5% respectively), anomalies of the aortic arch or its major branches 5 (31,3%), D-transposition of the great arteries in 3 (18,5%) cases. Amniocentesis with the study of fetal karyotype allowed the identification of numerical and structural chromosomal abnormalities in 18 patients (14,0%), in 2 of them were detected structural chromosomal abnormalities with 22q chromosome. Conclusions: Investigation on methods of primary prevention prenatal diagnosis (fetal ultrasound, karyotyping) is essential to reduce the frequency of chromosomal abnormalities and congenital malformations.