Abstract

PHENOTYPIC EXPRESSION OF THE SYNDROMIC STRUCTURAL HEART DEFECTS

Cristina-Crenguta Albu*, Adriana Vasilache, Dinu-Florin Albu and Stefan-Dimitrie Albu

Abstract

Atrioventricular canal defect is a congenital heart malformation characterized by a variable deficiency of the atrioventricular area in the developing heart. The focus of this study is to highlight the benefits of the cytogenetic examination, in the correct management of trisomy 21 syndrome associated with atrioventricular canal defect, early prenatally detected by ultrasound examination at 22 weeks of pregnancy. As a direct consequence, prenatal ultrasound detection and genetic testing are crucial for the diagnosis of rare genetic birth malformations.

Keywords: trisomy 21, atrioventricular canal defect, amniocentesis ultrasound examination, karyotype, prenatal diagnosis.