Chromosomal microarray analysis during pregnancy with a common type of congenital heart disease may be useless.

An ventricular septal defect (VSD) is a congenital heart defect characterized by a defect between the right and left ventricles of the heart. CSF is the most common congenital heart disease, affecting 1 out of 300 live births.

In a new study published in the journal Acta Obstetricia et Gynecologica Scandinavica, scientists decided to determine the relevance of the results of chromosomal microarray analysis (CMA) in a large cohort of pregnancies with benign cancer.

Of 568 pregnancies with an isolated form of pathology, only 8 (1.4%) clinically significant variations in copy number (CNV) were detected.

At the same time, out of 123 pregnancies with uninsulated BC, 18 (14.6%) clinically significant results of the chromosome microarray analysis were detected, which means an increased risk compared to control pregnancies. Anomalies detected by karyotyping amounted to 12 out of 18 pathological results of the analysis in the group of breast cancer (66.7%) with an uninsulated form, which is significantly higher compared to 2 out of 8 (25%) in the cohort with isolated breast cancer.

- The results of our study suggest that the frequency of pathological manifestations of the chromosomal microarray analysis in isolated DZHP does not differ from pregnancies with normal ultrasound. This observation is valid for populations undergoing standard screening tests for trisomy and ultrasound, as well as for widely available non-invasive prenatal screening. On the contrary, the analysis of CMA gives a high frequency of detecting pregnancies with an uninsulated ventricular septal defect, the authors of the article write.

Thus, a new study casts doubt on the recommendation to perform invasive prenatal testing of CMA in pregnancies with isolated VSD.