Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

ESPECHE, LUCÍA; OLIVERI, JAEN; GALAIN, MICAELA; BRUQUE, CARLOS; BERENSTEIN, ARIEL; VILAS, MARIANA; FURFORO, LILIAN; ROZENTAL, SANDRA; DELEA, MARISOL; BIDONDO, MARÍA; BRUN, PALOMA; FERNÁNDEZ, CECILIA; KOLOMENSKI, EMILIO; COSENTINO, VIVIANA; RITTLER, MÓNICA; LIASCOVICH, ROSA; DAIN, LILIANA; MASSARA, LUCÍA; BARBERO, PABLO; FABRO, MÓNICA; TABOAS, MELISA; IZQUIERDO, AGUSTÍN; MARTINOLI, MARÍA; MENDEZ, RODRIGO; GROISMAN, BORIS

Proceedings

MDPI

Año: 2020 vol. 76

In this work, we aim to identify the genetic causes of pathogenesis in Argentinean patients with multiple congenital anomalies (MCA) and isolated Congenital Heart Disease (iCHD). We recruited 174 MCA and 194 iCHD patients from 15 public hospitals. Karyotyping was performed for MCA patients, and MLPA for conotruncal CHD or suspected 2q11 Deletion Syndrome (22q11DS). Selected samples were analyzed by array-CGH (Comparative genomic hybridization) (n = 89) and/or Next-Generation Sequencing (NGS) (n = 18). We successfully analyzed 252/368 patients: 14 had cytogenetic abnormalities, 27 had imbalances in 22q11, and 16 had other clinically relevant copy number variations (CNVs). NGS revealed 12 relevant nucleotide variants (five novels). Combining molecular, clinical and genetic evaluations, the diagnostic yield was 26.2%.