Background. Triploidy is one of the most frequent chromosome abnormalities in spontaneous abortion in humans. In the vast maj ority of cases triploidy leads to embryonic or fetal loss. Triploid cases with a survival into the second trimester of pregnancy are infrequent. The parental origin of the additional chromosome set is known to have a major impact on the phenotype of the fetuses. Uniike other numerical chromosome aberrations, for example trisomies, the incidence of triploidies does not increase in women of advanced childbearing age and no other susceptibility factor has been identified.
Patients and Methods. A 29-year-old woman referred for genetic counselling to Centre for Medical Genetics of Vilnius University hospital “Santariškių Klinikos” because intrauterine growth retardation was noticed by ultrasound examination of fetus. Because of the findings, cytogenetic chromosome analysis of the amniotic fluid was scheduled. Prenatal diagnosis has been periormed using G-banded chromosome analysis.
Results. Prenatal diagnosis of fetal karyotype has revealed triploidy - 69, XXY karyotype.
Conclusions. It is the first case of triploidy reported in Lithuania. However, it could not be only case in our population because spontaneous abortion can arise betore the time of amniocentesis and karyotype assessment. Thus, it is estimated that triploidy in human is more common.
