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Triploidy is the numerical chromosome aberration with present extra chromosome haploid set which can be maternal or paternal by origin. In the case of miscarriages during the first three months (of the pregnancy) triploidy is one of the most usual chromosome aberrations. Female patient aged 25 years with the first pregnancy, no previous miscarriages, no encumbered personal and family medical history, was admitted to a hospital in 17th gestational week due to lower fetal viability, placental edema, and multilocular tumefaction originating from the ovaries and elevated Ca125. Previous 'Double' test, at 12th gestational week, had showed the increased risk for trisomy of chromosome 21, although only biochemical parameters had been taken into account. It was found that there was fetal triploidy 69, XXX, with high levels of β-hCG (MoM 5.8261), whereas PAPP were slightly elevated (1.4639 MoM) compared to multiple of the median (MoM 1) for the pregnancy term. Following the definite diagnosis, the pregnancy was terminated. Non-invasive prenatal screening tests (Double, Triple test) in case of triploidy show increased risk for chromosomal anomalies. The triploidy is confirmed by invasive prenatal methods (chorionic villus sampling, amniocentesis, and cordocentesis) and on the basis of clinical analysis. The triploidy of fetus is the condition which is lethal. It also represents a rare cytogenetic medical finding during prenatal diagnostics. The research and finding of biochemical markers, which are specific for this kind of condition, would enable detection of triploidy in the early pregnancy.

medicinski časopis

The case of triploidy of fetus (69,XXX) confirmed by amniocentesis after the non-invasive screening test with increased biochemical risk on chromosomal anomalies in the first three-month period