PERINATOLOGIYA I PEDIATRIYA.2015.2(62):22-24;doi10.15574/PP.2015.62.22

Characteristics of quantitative changes of sex chromosomes in fetuses of high-risk pregnant women

Gordienko I. Yu., Nikitchina T. V., Vaschenko O. O., Tarapurova O. M., Velychko A. V., Rachenko K. V.

SI «Institute of Pediatrics, Gynecology and Obstetrics NAMS of Ukraine», Kyiv, Ukraine 

Quantitative changes of sex chromosomes compatible with postnatal development and diagnosed sometimes only during adolescence.

Purpose — the analysis of the results of prenatal cytogenetic diagnosis of quantitative changes of gonosomes in fetuses of high-risk pregnant women.

Patients and methods. Prenatal ultrasound examination of 4354 fetuses of high-risk pregnant women was performed, followed by fetal karyotyping. For cytogenetic analysis of biopsy samples a direct method of processing the villi was used and for fetal blood — halfmicromethod.

Results. A total of 46 (1.06%) cases with quantitative changes of gonosomes were identified. Monosomy X was the most frequently diagnosed — 26 (56.52%) cases, another honosome anomalies were: X chromosome trisomy — 11 (23.91%), XXY karyotype — 6 (13.04%), Y chromosome dysomy — 3 (6.52%) cases.

Conclusions. The absence of one of gonosomes cause congenital malformations 9 times more frequently, than the presence of extra X or Y chromosome.

Key words: karyotype, fetus, gonosomes, prenatal diagnosis.