Prenatal stage diagnosis of large ventricular septal defect in at patient with Edwards Syndrome

Abstract Edwards syndrome is the second most common autosomal chromosomal disorder after trisomy 21. It is characterized by abnormalities in multiple organs, with cardiac malformations being predominant. Prenatal diagnosis is complex in centers without maternal-fetal medicine services; however, findings on fetal echocardiography can raise suspicion and broaden the diagnostic approach. We present the case of a newborn with Edwards syndrome, diagnosed at 23 weeks of gestation by Fetal Cardiology, with a large interventricular septal defect, in addition to data of intrauterine growth restriction, with a normal fetal cardiovascular profile, the diagnosis being corroborated at birth with karyotype, and presenting a poor prognosis, with a prolonged hospital stay, dependence on invasive mechanical ventilation, and survival beyond the first month of life, reaching a total of four months. During this period, the patient exhibited inability to feed spontaneously, development of severe neurological sequelae, and final outcome with death.