Phd in HUMAN BIOLOGY AND MEDICAL GENETICS

Thesis title: Prenatal diagnosis and genetics of congenital heart diseases characterized by septal defect: a multicentric retrospective study

Congenital heart diseases characterized by septal defects are the most frequent cardiact anomalies prenatally diagnosed. At least 25% of these diseases are related to genetic anomalies, mainly to karyotype anomalies, or Chromosomal Micro Array defects, or exomal variants. In our retrospective multicenter study, we collected data of pregnant woment with suspect of fetal cardiac congenital anomaly characterized by septal defect, underwent prenatal invasive diagnosis, like amniocentesis or chorionic villus sampling (CVS). Data from 149 women are collected, in total 154 fetuses. Cardiac congenital diseases characterized by septal defect resulted statistically related to karyotype anomalies when associated to extracardiac anomalies, while they were statistically related to NGS pathogenic variants when associated to intracardiac anomalies. Furthermore, among cardiac diseases, AVSD was related to karyotype anomalies in 68.2% of cases, VSD in 25% of cases, TOF in 15.8 % of cases. Partial lack of data on CMA in more than half of patients and heterogeneity of NGS results represented the greatest weakness of the study. Further studies are needed to reach significative results on congenital heart diseases, CMA and NGS.