Trisomy 9 is a rare chromosomal disorder that often results in significant mortality. We present a case report in a low-risk pregnancy. The prenatal ultrasonography at 12 weeks of gestation showed normal nuchal translucency and the presence of the nasal bone. The anatomy scan performed by an experienced doctor revealed an abnormal four chamber view and abnormal posterior cranial fossa. First trimester biochemical analysis ( free βhCG and PAPP-A) showed high risk for trisomy 18. By amniocenthesis ( at 16 weeks of gestation ) and karyotype evaluation trisomy 9 was diagnosed and at 20 weekstermination was conducted on maternal request.
Congenitally corrected transposition of great arteries is a rare congenital heart defect. The clue of the abnormality is the inversion of the ventricles which caused abnormal atrioventricular and ventriculoarterial connections. This defect is seldom identified prenatally, much more seldom than the simple transposition of the great arteries, even though, we can observe it, on the image of 4 chambers of the heart. Prenatal diagnosis of this defect, at the 24th week of pregnancy and during the routine ultrasound scan, is being described below. The echocardiographical features of the congenitally corrected transposition of great arteries are being presented, with reference to the differences in the image of the 4 chamber view.
DORV [double outlet right ventricle] is defined as a defect in which the great vessels leave entirely or mostly from above the morphologically right ventricle. The proposed by us new prenatal classification of heart defects for the DORV defect including the division into isolated and coexisting with extracardiac defect, facilitates consultation and predicting prognosis for the fetus and newborn. Isolated DORV in fetuses is classified as a severe elective defect (expected cardiac intervention or surgery at 1 month of age) with a relatively good prognosis for newborns, regardless of the type of intracardiac anomalies (in our series of cases 100% survival). DORV in the fetus with coexisting extracardiac defects (ECM) regardless of type of anomaly had poor prognosis (in our study group 100% demise rate).
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