Amaç
We aim to present a case of Trisomy 13 syndrome with Tetralogy of Fallot which we could not meet in the English literature between 1966 and 2001 and to review the prenatal diagnosis of Trisomy 13 syndrome.
Olgu
A-23-year old primigravid woman who has 25 weeks pregnant women with morphometrics of Biparietal Diameter and Head Circumference below the fifth percentile. The sonographic abnormailities were 'strawberry-shaped head', cerebellar hypoplasia, hypotelorism, micrognatia, small thoracal diameter, tetralogy of Fallot abnormality in the heart, bilateral enlargement of kidneys bilateral polydactyly in foot and clinodactyly in the fingers. Karyotypic examination was reported to be Trisomy 13. The findings on the outopsy were similiar to sonographical findings.
Sonuç
We emphasized the role of fetal echocardiography in prenatal diagnosis of syndromes and in the routine antenatal screening program, since we observed tetralogy of Fallot abnormality in a patient with Trisomy 13, known as syndrome of multiple abnormailities.
Anahtar Kelimeler
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