Maria-Angelica Bencze, Marina Imre, Cristina-Crenguta Albu*, Stefan-Dimitrie Albu, Dinu-Florin Albu, Ana Maria Cristina Tancu


Anencephaly, the most severe form of cranial neural tube malformation, is a multifactorial disease which occurs as a consequence of the interaction between the genetic factors and the environmental factors. We are presenting here a particular case, of a patient aged 32 years old, Caucasian, clinically healthy, without pathological personal antecedents and without heredocolateral antecedents, pregnant for the first time, presents to A. S. Medical Center, from Bucharest, Romania, for a routine ultrasound examination. According to the first trimester ultrasonography, the following ultrasound diagnosis was established: Monofetal preganancy of 12 weeks, in evolution. Fetal anencephaly, a defect of the closure of the neural tube, early prenatally diagnosed and confirmed postnatally. The fetal ultrasound examination is a non-invasive prenatal diagnosis method, today very performant, cost-effective, and fast, through which the severe malformations can be diagnosed successfully by prenatal ultrasound screening, early, in the first trimester of pregnancy.

Keywords: anencephaly, ultrasound examination, prenatal diagnosis.

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