Role of amniocentesis in the prevention of chromosomal gene diseases

Abstract

The purpose of the study: to determine the most effective type of tests used to identify a fetus with chromosomal abnormalities in the womb. Materials and methods of research: the results of examination of 45 patients who passed amniocentesis to the private clinical laboratory "Genotechnology" in Tashkent were studied. Information about the method (FISH) was collected from the multidisciplinary clinic of the Tashkent Medical Academy. Analysis and discussion of the results: 10 out of 45 mothers (16-21 weeks of pregnancy, mean age 35.3 years) gave birth to a child with Edwards syndrome, although 10 mothers (22,0%) had a negative blood test. 20 mothers (45,0%) who tested blod 3 times were not provided with complete information each time The remaining 15 mothers (33,0%) had an incorrect abortion, that is, an abortion was performed, although the fetus was healthy, or positive information was given about child’s health, but he was born with Down syndrome. Later, these pregnancies resorted to the method of amniocentesis. According to the results of amniocentesis, 3 pregnant women were diagnosed with Down syndrome, 2 pregnant women with Edwards syndrome, and 1 pregnant woman with ShershevskyTurner syndrome. The life of the child (87,0%) was left to the discretion of the family to have a medical abortion or not. Conclusion: Amniocentesis is fundamentally different from the maternal blood test with the efficiency of 99.0%. Erroneous medical abortion is not allowed