Clinical case of a live-born child with triploidy

Theoretical data on etiopathogenesis, clinical manifestations of triploidy, life expectancy of children in case of live-birth with this chromosomal anomaly are presented. A clinical case of a triploidy in a child is described. The girl was born from the first pregnancy from young healthy parents. Parents are not close relatives. Pregnancy was complicated with anemia, recurrent threats of miscarriage, progressive lack of water, progressive violation of uteroplacental blood flow and delay in fetal development. A congenital heart defect was diagnosed prenatally. The girl was born at 38 weeks of pregnancy with low indicators of physical development by caesarean section. Multiple developmental anomalies and malformations were revealed after birth. Combined congenital heart disease was confirmed by instrumental examination. Karyotyping revealed karyotype 69, ХХХ. Dynamic observation revealed that the child's age-related skills were not formed. Epileptic seizures occurred from the age of 4 months. The seizures had a status course. Surgical correction of congenital heart disease was performed in two stages: at 4.5 months and at 9.5 months in this patient. A fatal outcome occurred with an increase in multiple organ failure at the age of 10 months. The features of the clinical case, the possibilities of prenatal diagnosis of triploidy are analyzed.

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