Review article
ULTRASOUND IN PRENATAL DIAGNOSIS OF TRIPLOIDY AND TURNER SYNDROME
Radu Vladareanu
orcid.org/0000-0001-9512-2673
; Department of Obstetrics and Gynecology, Elias Emergency University Hospital, Bucharest, Romania
Daniel Tutunaru
; Department of Obstetrics and Gynecology, Elias Emergency University Hospital, Bucharest, Romania
Bogdan Alexandru
; Department of Obstetrics and Gynecology, Elias Emergency University Hospital, Bucharest, Romania
Alina Veduta
; Department of Obstetrics and Gynecology, Elias Emergency University Hospital, Bucharest, Romania
Mona Zvanca
; Department of Obstetrics and Gynecology, Elias Emergency University Hospital, Bucharest, Romania
Abstract
Triploidy means that there is a complete extra set of chromosomes in every cell of affected fetus. Instead of having 46 chromosomes, one set of 23 chromosomes from each parent, an individual with triploidy has 69 chromosomes. Triploidy can be detected prenatally by cytogenetic analysis of fetal cells obtained by chorionic villous sampling (CVS) or by amniocentesis. Postnatal diagnosis is based on phenotype of the proband with cytogenetic confirmation by karyotyping. Triploidy is lethal, most fetuses are miscarried, while some die within a few hours or days after birth. Turner syndrome is a form of primary ovarian insufficiency, called also gonadal disgenesis. Both, triploidy and Turner syndrome should be taken into consideration if sonography reveals minor or major abnormalities of the fetus in the first or in the second trimester of pregnancy. Active screening of these conditions is not justified in the general population. In rare occasions, both conditions can be diagnosed prenatally by ultrasound. The aim of this paper is to underline the importance of accurate prenatal ultrasonic diagnosis in everyday professional work, even though the conditions which are searched for are rare and exotic.
Keywords
ultrasound; prenatal diagnosis; triploidy; Turner syndrome
Hrčak ID:
23973
URI
Publication date:
1.12.2006.
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