The article reviews the clinical recommendations of American College of Medical Genetics and Genomics (ACMG) and joint ESHG/ASHG position concerning non-invasive prenatal testing (NIPT). An attempt to evaluate the NIPT for the fetal chromosomal pathology from the technological point of view was made. The perspectives for using NIPT in prenatal diagnostics of hereditary diseases and ethical problems associated with NIPT are discussed.

The results of a complex medical and population genetic study of hereditary skin diseases (HSD) in the population of 12 districts of the Rostov Region (RR) are presented. Purpose: genetic and epidemiological analysis of load of HSD and study of the role of genetic structure in differentiation of NCD burden in 12 districts of the RO. Materials and methods: The total size of investigated population of 12 districts of Rostov Region is 497460 people (197740 urban and 299720 rural). The load of autosomal dominant (AD), autosomal recessive (AR) and X-linked (X-link.) skin pathology is calculated. Results: the total value of the load of HSD among the population of the Rostov Region was 5.85 ± 0.34/10,000 (1:1709 people). The differentiation in the values of the load (AD and AR pathology) was identified as between districts, within the districts and between the urban and rural populations. A correlation analysis with values of random inbreeding was conducted to determine the reasons for the differences found. Conclusion: the influence of the genetic structure of the studied populations (subdivision and migration characteristics) on the values of the cargo of hereditary skin diseases is shown.

The genetic epidemiological analysis of the diversity of hereditary skin diseases (HSD) among the population of the Rostov Region is presented. The aim of the research: to describe the diversity of HSD in 12 districts of the Rostov region and to conduct a comparative analysis of the diversity of HSD in different regions of the European part of Russia. Materials and methods: The total size of totally investigated populations of Rostov Region was about 500 thousand people (12 districts). The diversity of hereditary skin diseases has been studied. Results and conclusions: The spectrum of HSD is represented by 20 nosological forms, including 13 - AD, 5 - AR and 2 with X-linked types of inheritance. An analysis of the prevalence of individual HSD in the Rostov Region compared to the previously surveyed populations of the European part of Russia showed the accumulation of 6 nosological forms with autosomal dominant type of inheritance: type 1 neurofibromatosis, tuberous sclerosis, congenital hypotrichosis, monilethrix, bullous form of ichthyosiform erythroderma, bullous epidermolysis, Kobner type.

Polymorphic loci of genes CYP2C9 (1075A>C; I359L, rs1057910 и 430C>T; R144C, rs1799853), CYP2C19 (681G>A, rs4244285 и 636G>A; W212X, rs4986893), CYP2D6 (1846G>A, rs3892097), CYP3A4 (p.Met445Thr; c.1334T>C, rs4986910 и -392C>T, rs2740574) were studied in healthy schoolchildren: 70 from Moscow (Russian Federation) and 100 from Minsk (Republic of Belarus). Statistically significant differences of allele and genotype frequencies between two studied groups were not absent.

Aim was to study the influence of polymorphism of IL1B gene promoter (G1473C) rs1143623 on the concentration of IL1B in the blood of patients with erysipelas in primary and recurrent course. The study was performed in 84 patients with erysipelas (51 patients with primary erysipelas and 33 patients with recurrent course) and 82 healthy residents. Gene polymorphism of IL1B was detected by PCR method. Measurement of the concentration of IL1B was performed by immunoassay analysis. Allele C , genotypes G/C , and C/C of promoter gene of IL1B (G1473C) were more frequent among patients with erysipelas. Homozygous C/C genotype of promoter gene of IL1B (G1473C) increased the risk of recurrent erysipelas. C -allele carrier led to decrease of IL1B concentration heterozygous G/C and homozygous C/C patients.

We report on a rare case of a chromosome abnormality - inverted Xq duplication/deletion in a woman with gonadal dysgenesis. Mechanisms of formation of such rearrangements and specifics of clinical signs in patients with Xq abnormalities are discussed.

A scientific study of the reasons of fetal losses is a crucial issue for infertility specialist and patients. According to Russian statistics, 45-88% of miscarriage is due to non-developing pregnancy, 11% of first pregnancies ends in a surgical abortion, the percent of miscarriage is 20%. One of the most common causes of miscarriage is the fetal chromosomal aberrations. This paper introduces a unique case of chromosome 21 with unusual morphology. The chromosomal aberration was firstly detected using GTG banding (G bands produced with trypsin and Giemsa) and then was precisely described with FISH analysis.

We present clinical and genetic characteristics of the girl with syndrome of mental retardation, X-linked 102 caused by a mutation in gene DDX3X identified in exome sequencing. We cited the clinical characteristics of syndrome of X-linked mental retardation type 102 described in the literature.