Community genetics in prenatal diagnosis programs
Keywords:
Congenital abnormalities/genetics, Prenatal diagnosis.Abstract
Introduction: the creation of centers to the development of community genetics all over the municipalities of the country has made possible an increased coverage of medical genetics services in Primary Health Care.Objective: to assess the results obtained in the establishment of Cuban Prenatal Diagnosis, Management and Prevention of Genetic Diseases and Congenital Defects.
Material and methods: a descriptive, retrospective kind of longitudinal study that included pregnant women recruited from January 1, 2007 to December 31, 2011 in La Palma municipality.
Results: 2016 pregnant women, representing the 51,7% presented degrees of genetic risk. In this group, adolescents (29,4%) and advanced maternal ages (15.8%) were the most important genetic risk findings, performing 1720 ultrasonographic tests between the 11 and 13.6 weeks, the coverage reached 94.8%. Out of them 47 were carriers of hemoglobin AS or AC. The level of alpha-fetoproteins in maternal serum (7.1%) showed high figures and the threatened abortion constituted the first cause of alteration. By means of ultrasonography test on the second term 20 pregnant women were prenatally diagnosed, who presented fetuses with congenital defects, achieving a coverage of 99,5%.
Conclusions: through the establishment of community genetic approach along with the coordinated work in primary health care, it is possible to create strategies to control and reduce the risks of congenital defects and common diseases in the population.
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