Distúrbios congênitos e idade parental em um programa de genética comunitária

estudo retrospectivo

Abstract

In Brazil, the prevalence of congenital malformations, genetic or environmental causes, is presented in the same order that is seen in other countries, but is a strong impact on child mortality, accounting for one third of pediatric hospital admissions and high rates of preterm and cesarean deliveries. Several malformation syndromes have also been associated with advanced parental age. This research is descriptive and documentary nature has the main objective to analyze the association between parental age and the occurrence of genetic disorders. To obtain data were analyzed anamnesis records of the Program Genetics & Society of the Institute Biology of the Federal University of Bahia, from 1986 to 2015. The results confirm the association of maternal age in Down syndrome and others autosomal trisomy and also the relationship of some conditions of genetic nature, observing however changes in risk stratification.  However, as described by other authors, the impact of advanced paternal age is not universal for these disorders. Studies on the association between paternal age and the occurrence of chromosomal disorders still need more extensive research. Regarding environmental factors, it was found that younger women are more likely to use of teratogenic substances with abortive purposes. It was also observed that older mothers are susceptible to the use of abortive substances, used for different reasons from those presented as possible for younger mothers. Were identified and described 59 rare diseases, totaling 204 cases, among these, 4 had co-occurrences: Achondroplasia and Down syndrome (1), Turner and Hemophilia A syndrome (1), Turner Syndrome and Diabetes (2). It was found among the complications possibly related to advanced maternal age, cases of hypertension, diabetics, pre-eclampsia and eclampsia. The average parental age was 32.02 ± 8.63, for the paternal age, and 27.90 ± 7.05, for maternal age. It concludes that parental age should be an important factor to be considered in genetic counseling of couples and that the association of parental age with congenital malformations and genetic syndromes is an increasingly relevant in preventive programs for child health.