Résumé
The authors present a study of prenatal diagnostic interventions in a public hospital. The invasive prenatal diagnosis can be achieved by means of threee methods, aspirative punction of chorionic villous, extraction of amniotic fluid and fetal blood sample. Samples of chorionic villus are empoyed for citogenetic study, determination of the fetal cariotype or realization of a specific determination through technic FISH (Fluorescence in situ hybridization) or molecular genetics. Sample of amniotic fluid consists in the aspirative puncture under direct sonographic control of the amniotic cavity. During the period of the study, 9457 obstetric sonographies were performed with 121 genetic consultations of whom 46 resulted in invasive prenatal diagnostics. The results obtained are discussed (AU)
Sujets)
Humains , Femelle , Grossesse , Diagnostic prénatal , Prélèvement de villosités choriales , Épidémiologie Descriptive , Études rétrospectives , Études longitudinales , Échographie , Femmes enceintes , CytoponctionRésumé
Congenital heart defects or congenital cardiac malformations represent one of the major causes of death in children younger than 1 year. The incidence varies between 4 - 13 for each 1000 newborns. Represents the severe structural malformation of the higher prevalence worldwide. In the "Professor A. Posadas Hospital" during the year 2015, it was registered a frequency of congenital anomalies of 7,1 % , being in the first place the musculoskeletal malformations with 19,4 %, and in the second place we can find the cardiovascular manifestations with 18.1 %. It is important the prenatal diagnosis in order to carry out an assessment to their parents, to reach the birth in a high complexity center and in the possible case, to plan the possibility of performing a fetal therapy. There exists scientific evidence that proves that the prenatal diagnosis improves the neonatal survival, even being this anomalies the less diagnosticated during the prenatal period These considerations are discussed in the article.