In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.

The effect of different demographic and social factors on the consent of pregnant women for invasive prenatal diagnosis or rejection of it was analyzed. Pregnant women from the Moscow region were examined in the period from 12.12.2012 till 30.10.2014. 1580 pregnant women were at the risk of chromosomal abnormalities in the fetus of 1: 100 and above. All of them have received genetic counseling. Invasive procedure was carried out in 1164 (73.7%) of them, 416 (26.3%) rejected it. Data on age, place of residence, social status, presence or absence of children, children’s health, the presence or absence of spontaneous abortions have been received. The proportion of women who refused invasive procedure, significantly differed from two genetic counselors c 2 = 7.8; p = 0.0055). First counselor’s patients significantly more frequently indicated that they feared complications of invasive procedures (63.8% vs 31%), or they could not formulate reasons for the refusal of it (83.3% vs 16.7%). Second counselor’s patients significantly more frequently pointed to the decision to have a child, regardless of his health (70% vs 30%). The results demonstrate the need for national guidelines on prenatal genetic counseling and additional training of geneticists involved in the program of early prenatal screening.

Priority in the prevention of congenital malformations and chromosomal abnormalities in children and prevention of infant mortality, disability, morbidity from this type of pathology is prenatal diagnosis (PD). The leading measure in it today is early prenatal screening (ЕPS), performed centrally at the expert level of diagnosis and allowing for 11-14 weeks with 85% sensitivity to detect frequent chromosomal trisomies (CНA) and gross anatomical defects (СМ) in the fetus. Since 2014, the Ministry of Health of the Russian Federation has been conducting an annual external quality control of the activities of the ЕPS and assesses its effectiveness according to the original data from the unified software system of the ЕPS system for all entities. In 2017, with data for 2016, 77 subjects and 3 zonal representatives took part in the audit. With an average coverage of 80% in 2016, 1,185,274 pregnant women passed through the expert diagnostic level in the RF subjects of the Russian Federation. In terms of 11-14 weeks of pregnancy, 2857 СМ and 3195 СНA were prenatally detected.

Early combined prenatal screening for frequent chromosomal abnormalities and congenital disorders was organized in the Russian Federation in 2010 on the initiative of the Ministry of Health and Social Development and with the support of the Government of the Russian Federation in accordance with FMF guidelines. The first results achieved in the implementation of the activities of new screening model, and the evaluation of key indicators and the general condition of the early prenatal screening in the regions and the federal districts of Russia are presented.

Early combined prenatal screening for frequent chromosomal abnormalities and congenital disorders was organized in the Russian Federation in 2010 on the initiative of the Ministry of Health and Social Development and with the support of the Government of the Russian Federation in accordance with FMF guidelines. The first results achieved in the implementation of the activities of new screening model, and the evaluation of key indicators and the general condition of the early prenatal screening in the regions and the federal districts of Russia are presented.

Medical and social importance of congenital and hereditary diseases requires improving preventive measures such as prenatal diagnosis (PD). Results of the audit of the new PD system of congenital malformations and frequent chromosomal abnormalities (CA), which was gradually introduced in the regions of the Russian Federation since 2010 as a part of the national priority project «Health», are presented. International experience and the recommendation of an independent medical organization Fetal Medicine Foundation, UK (FMF) formed the basis of a new algorithm of early prenatal screening in Russia. During the work on the project major problems were solved: the creation of regional systems of expert-level diagnostics, special training and validation of competences of expert doctors to perform ultrasound examinations in 11—14 weeks gestation, the use of a single software that allows to calculate the individual risk of CA by a combination of ultrasound and biochemical data and to carry out internal and external audits of all prenatal measurements.