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Peretrukhina I.V., Kazeeva D.O.
Laboratory diagnostics of chromosomal pathology in Murmansk and the Murmansk region (2006-2011)
Abstract. The optimum method of chromosomal analysis of chorionic villus cells (placenta) in the diagnostics of chromosomal congenital and hereditary diseases has been defined. It has been stated that compulsory genetic consultation should be included in the complex of surveys to help improve the efficiency of the prenatal diagnostics. On the basis of statistical data the maximum value of chromosomal abnormalities constituting 8.3 % in 2011 as well as their overall percentage (3.8 %) in the last six years have been revealed. The growth of polymorphism (1.03 %) and translocation (0.5 %) has been observed. The chromosomal abnormalities have been revealed more (5.1 %) at the stage of embryonic development than at the stage of postnatal development. This proves the importance of prevention of hereditary diseases and timeliness of genetic consultation.
Keywords: lymphocytes, amniotic fluid cells, placenta cells, cytogenetic diagnostics of chromosomal abnormalities, risk group, karyotype, chromosome preparation, statistics of hereditary diseases
Printed reference: Peretrukhina I.V., Kazeeva D.O. Laboratory diagnostics of chromosomal pathology in Murmansk and the Murmansk region (2006-2011) // Vestnik of MSTU. 2013. V. 16, No 4. P. 777-782.
Electronic reference: Peretrukhina I.V., Kazeeva D.O. Laboratory diagnostics of chromosomal pathology in Murmansk and the Murmansk region (2006-2011) // Vestnik of MSTU. 2013. V. 16, No 4. P. 777-782. URL: http://vestnik.mstu.edu.ru/v16_4_n54/777_782_peretr.pdf.
