Abstract

THE POWER OF NON-INVASIVE PRENATAL DIAGNOSIS IN THE EARLY DETECTION OF SEVERE STRUCTURAL BIRTH DEFECTS

Cristina-Crenguta Albu*, Adriana Vasilache, Mihaela Tanase, Ioana Andreea Stanciu, Dinu-Florin Albu and Stefan-Dimitrie Albu

Abstract

Severe congenital anomalies have a significant impact on neonatal, infant, and childhood mortality and morbidity. We are presenting here a novel phenotypic variety of isolated, sporadic, non-hereditary birth defect, which associates partial agenesis of the corpus callosum, mandibular hypoplasia, cystic hygroma of the neck, transposition of the great vessels and bivascular umbilical cord, and which was successfully diagnosed prenatally by ultrasound examination at 19 weeks of pregnancy, being probably caused by a de novo spontaneous mutation or a disorder of embryogenesis of a non-genetic nature.

Keywords: birth defect, mandibular hypoplasia, cystic hygroma, agenesis of the corpus callosum, ultrasound examination, prenatal diagnosis.