Abstract
We present a unique association of fetal malformations very early diagnosed by ultrasoundexamination, at 14 weeks of gestation. A 28-year-old pregnant female, was addressed in a privatemedical center from Bucharest, Romania, for a routine ultrasound screening. A detailed ultrasoundevaluation of the fetus showed numerous and significant cephalic and heart malformations. Theultrasound examination of the fetal head suggest the diagnosis of fetal lobar hydrocephalus, and theultrasound examination of the fetal heart suggest the transposition of the great vessels. The parentswere informed about the severity of the fetal malformations and decided to terminate the pregnancydue to medical reasons. Anatomopathological examination confirmed the prenatal diagnosis. Firsttrimester ultrasonography was crucial in the early prenatal diagnosis and management of themalformed fetus with a unique association of fetal malformations.
Highlights
We present a unique association of fetal malformations very early diagnosed by ultrasound examination, at 14 weeks of gestation
The ultrasound examination of the fetal head suggest the diagnosis of fetal lobar hydrocephalus, and the ultrasound examination of the fetal heart suggest the transposition of the great vessels
The benefits of ultrasound examination are early prenatal diagnosis of severe congenital malformations reassurance, and relatively easy decision to terminate the pregnancy for medical reasons if required [10, 11]
Summary
Congenital hydrocephalus is a rare isolated or associated multifactorial condition of genetic or epigenetic cause, characterized by an abnormal excess of cerebrospinal fluid within the cerebral ventricle with ventricular dilatation [1].The most common causes of congenital hydrocephalus include aqueductal stenosis, neural tube defect (spina bifida), arachnoid cysts, Chiari malformations, and Dandy-Walker syndrome [2].Genetic research in laboratory animals illustrate that genetic factors play a considerable role in the pathogenesis of hydrocephalus, but it is difficult to evaluate whether data gained from laboratory animals can be extrapolated to humans [3, 4].The transposition of the great vessels, one of the most severe cyanotic heart defects, with an incidence of 1 in 3,500-5,000 live births, is a congenital heart malformation with unknown etiology, very rarely associated with genetic syndromes [5,6]. We present a unique association of fetal malformations very early diagnosed by ultrasound examination, at 14 weeks of gestation. A 28-year-old pregnant female, was addressed in a private medical center from Bucharest, Romania, for a routine ultrasound screening.
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