MOLECULAR GENETIC TECHNIQUES FOR THE PRENATAL DIAGNOSIS OF CHROMOSOME ABNORMALITIES


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Abstract

The given review considers the current molecular genetic methods used in prenatal diagnosis: interphase fluorescence in situ hybridization, quantitative fluorescence polymerase chain reaction, multiplex ligase chain reaction, prenatal BACs-on-Beads assay, and a comparative genomic hybridization technique. The methods complement the standard cytological technique and overcome its some restrictions. The presented review comparatively analyzes these methods, capacities and limitations. The technology of the methods is based on the attention focused in the hot spots of chromosomes, whose change gives rise to certain pathological syndromes; the notion of targeted molecular genetic karyotyping is introduced. The tactics of a genetic laboratory study in prenatal diagnosis are discussed. The advance of molecular genetic techniques poses a new data interpretation problem that is yet to be solved.

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About the authors

O. A BUYANOVSKAYA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

Email: o_buyanovskaya@oparina4.ru

Zh. I GLINKINA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

N. A KARETNIKOVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

V. A BAKHAREV

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

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