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CHROMOSOMAL ANOMALIES. ROLE OF CYTOGENETIC STUDY AT THE STAGE OF PRENATAL DIAGNOSTICS

DOI: https://doi.org/10.29296/25877305-2019-11-02
Issue: 
11
Year: 
2019

V. Morozova(1), Candidate of Chemical Sciences; А. Aseeva(1), Candidate of Medical Sciences; Professor Е. Domracheva(1), MD; Professor О. Giesinger(1, 2), Biol. Dr.; Т. Silkina(1) 1-Laboratory GEMOTEST, Moscow 2-Peoples’ Friendship University of Russia, Moscow

Chromosomal abnormalities associated with changes in the number and structure of chromosomes in a human karyotype are extremely diverse in both structure and magnitude. The difficulties in prenatal diagnosis are that many hereditary abnormalities are transmitted to children from phenotypically perfectly normal parents carrying one or another chromosomal abnormality anomaly. The review describes the types of chromosomal abnormalities that lead to infertility, non-gestation and the birth of children with developmental defects. The capabilities of a modern laboratory allow, using to help determine the degree and depth of the lesion. The danger of this pathology and give the couple a chance to have a healthy child using pre-implantation genetic screening and choosing healthy embryos for implantation during the IVF procedure.

Keywords: 
genetics
chromosomal abnormalities
cytogenetic study
karyotype analysis
miscarriage



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