DOI: 10.36347/sjams.2019.v07i08.032

Pages: 2784-2790

Background: Congenital heart disease (CHD) is one of the most common birth defects. Genetic factors have been implicated in its etiology. The aim of the study was to determine the relationship between chromosomal abnormalities and CHD and also to assess the incremental yield of genomic microarray over conventional karyotyping in these fetuses. Methods: Prospective observational study was performed in our hospital including fetuses with a nuchal translucency (NT) ≥ 99th percentile or structural malformations diagnosed by ultrasound between 2013 and 2017. We analyzed the incidence of CHD in both groups and the association of CHD with chromosomal abnormalities, as well as the increase in diagnostic performance of the chromosomal microarray analysis (CMA) compared with conventional karyotype. We performed a descriptive analysis of the mean, the interval and the standard deviation for continuous variables and an analysis of absolute frequency and percentages for the categorical variables. Results: Among 225 pregnant women were included, 102 of them had fetuses with NT ≥ 99th percentile and 123 pregnant had fetuses who exhibited structural malformations. Of the 102 fetuses with increased NT, 36.3% had an abnormal karyotype. Array was performed in 64 of the 102 cases (62.7%). The incidence of CHD in this group was 8.8%. Incremental yield of CMA over karyotyping was 6.5%, but there was no incremental yield in cases of CHD and NT increased. In the second group, fetuses with structural malformation, 14.2% had an abnormal karyotype and the array was performed in 30 cases. The incidence of CHD was 28.4%. Incremental yield of CMA over karyotyping was 14.2 % in those fetuses with CHD. Conclusions: The use of chromosomal microarray analysis provides good diagnostic performance in the fetal group with structural malformations, higher than in the group with increased NT.