Prenatal diagnostics optimization of congenital and hereditary diseases

Abstract

The main method of congenital and hereditary diseases prenatal diagnostics is ultrasound at 10–14 weeks of pregnancy, continuing with the protocol development for fetal anatomical structures early pregnancy screening assessment. Materials and methods. Investigations were performed into two phases. At the first stage, 100 women were examined. Fifty women with perinatal loss in history were allocated to study group I. At stage 2, the screening-mode ultrasound was conducted in a period of 11 to 14 weeks of pregnancy in 5498 patients; of these, 55 patients with registered fetal and newborn various congenital and hereditary diseases were al located to study group II. A special scheme for ultrasound fetal anatomy study in 11–14 weeks of pregnancy was done. Results. Transvaginal ultrasonography is a highly informative method of prenatal diagnosis in the early stages of pregnancy and can detect 43.6% of all congenital malformations. The normative values of fetal nuchal translucency depending on the numerical values of his coccyx-rump length and protocol evaluation of fetal anatomical structures and organs during screening ultrasound at 11–14 weeks of pregnancy were developed, allowing to diagnose a variety of chromosomal abnormalities in early pregnancy. Conclusions. The efficiency improvement of perinatal pathology early diagnostics and effective prediction, especially in high-risk pregnant women group, should be carried out in a complex character with the echographic examination data in early pregnancy, feasibility of pregnancy carrying forward conclusions and subsequent tactics of its conduction integrated.