Non-invasive prenatal screening: experience in the Republic of Tyva

Diagnosis of congenital developmental anomalies and chromosomal abnormalities of the intrauterine fetus in early pregnancy can reduce infant mortality rates. The purpose of research: to evaluate the first results of the non-invasive prenatal test (NIPT) in the Republic of Tyva. Materials and methods. A retrospective analysis of the reports of the Federal State Statistics Service for the Republic of Tyva, the Ministry of Health and the Tyva Perinatal Center was carried out; monitoring data of congenital developmental anomalies in the republican medical genetic center. Results. Analysis of infant mortality in the Republic of Tuva for the period from 2000 to 2019 showed that with a steady decline in indicators (29.9–7.3‰), its level significantly exceeds the national average. One of the leading causes of infant mortality in the republic is congenital malformations, the frequency of which among newborns in Tuva is 12.6–33.4‰. Diseases caused by chromosome abnormalities make up from 4.3% to 1.2% in the structure of congenital malformations. In recent years, the number of women who underwent fetal pathology screening in the first trimester of pregnancy has been increasing in the republic (56.2–62.1%). According to combined screening, the detection of major chromosomal aneuploidies (Down, Edwards and Patau syndromes) is 2.1–6.6%. In all cases of positive screening, NIPT was performed, which has a higher specificity and sensitivity; the presence of chromosomal aberrations in the fetus was confirmed in 98.1–99.5% of cases. Conclusion. The introduction of widespread use of NIPT in the republic will increase the efficiency of detecting chromosomal abnormalities, reduce the number of invasive diagnostic interventions, avoid unjustified termination of pregnancy and reduce infant mortality.