Awareness of patients seeking a medicogenetic counseling as a factor for prevention of hereditary and congenital diseases

Aim. To evaluate the awareness of patients of questions of medical genetics at the stage of family planning before pregnancy. Methods. Sociological, statistical and analytical analysis was performed. 350 respondents participated in the survey, including 304 pregnant women. Results. 219 (62.6%) of 350 respondents reported that they didn’t know the risk factors for hereditary and congenital diseases. Smoking as a risk factor was noted by 32 (9.1%) of all respondents, alcohol abuse - by 7 (2%), drug abuse - by 3 (0.9%), medication intake - by 24 (6.9%), infections - by 20 (5.7%), the presence of disease with hereditary predisposition - by 25 (7.1%), malnutrition - by 20 (5.7%) respondents. Approximately half of all respondents reported that they «know about the threads associated with hereditary and congenital diseases for the health status of their future child», 39.1% «knew, but not enough», 11.2% «didn’t know». Out of 350 respondents, 299 (85.4%) have never seek for medicogenetic counseling for pregnancy planning before. The main reasons for seeking for medicogenetic counseling were: abnormal biochemistry test results found at screening - in 169 (55.6%) of cases, seeking for prognosis of the future child health - in 61 (20.1%) of cases, age over 35 years - in 39 (12.8%) cases. Almost one-third of all responders (33.2%) did not know about methods for hereditary and congenital abnormalities prevention, 41.2% «knew, but not enough», and only 25.6% thought that they knew about those methods. Conclusion. The patients are seeking for the medical and genetic counseling in retrospect, when they already have health problems, and they are not informed about medical and genetic counseling, as well as are unaware of the importance of risk factors and methods for hereditary and congenital abnormalities prevention.

patient awareness, medical and genetic aid management, congenital and hereditary diseases prevention, risk factors