Resultado de estudio prenatal invasivo para el diagnóstico de aneuploidía en el Hospital Sótero del Río

Abstract

Background: Malformations and aneuploidy are a major cause of perinatal morbidity and mortality in Chile. Invasive techniques are offered to determine the fetal karyotype, when there is an abnormal finding in the ultrasound. Aims: To assess the local situation of prenatal genetic diagnosis to improve the management of this population. Methods: This is a retrospective and descriptive study of patients from october 2010 to march 2015, who had an amniocentesis for genetic testing due suspected fetal malformations or aneuploidy. Results: The sonographic findings most frequently found were: congenital heart disease, malformations of the central nervous system and early growth restrictions. 164 patients agree to perform invasive prenatal genetic, obtaining 154 results. The average maternal age was 30 years and the mean gestational age at amniocentesis was 27+3 weeks. In trisomy 21 pregnancies, 71[%] of patients were higher than 35 years. 31[%] of the samples had abnormal karyotype: trisomy 21 (14[%]), trisomy 18 (9[%]), Turner's syndrome (4.5[%]) and trisomy 13 (3[%]). Conclusions: Prenatal genetic diagnosis allows appropriate perinatal management and contributes to prepare the patient and their families for an adverse perinatal outcome.