Amniocentesis for Cytogenetic Study and Its Main Indications in Havana, Cuba (2007 – 2016)

Abstract

Introduction: The prenatal diagnosis of chromosomal abnormalities in Cuba began in Havana in 1984, by analyzing the amniotic fluid by amniocentesis in the second trimester of pregnancy. In 1987, diagnosis by chorionic villus analysis was introduced in the first trimester, as part of a subprogram within the National Program for the Diagnosis and Prevention of Genetic Diseases led by the National Center for Medical Genetics.
Objective: To validate that advanced maternal age continues to be the main feature to propose a cytogenetic study in high-risk pregnant women in the province of Havana.
Methods: A descriptive, retrospective, longitudinal-section study was conducted in 12,909 medical records of pregnant women who underwent amniocentesis, proposed in the consultation of Havana Provincial Center for Medical Genetics, from January 2007 to
December 2016. Different parameters related to the number of cases per year were analyzed according to different criteria and sensitivity, specificity, positive predictive value and negative predictive value of maternal age were calculated as a predictor of the occurrence of chromosomal abnormalities.
Results: The main criterion for indicating this invasive study was the advanced maternal age in 82% of cases, showing 86% of sensitivity and 95.85% false positive rate. It would be useful to update the prenatal diagnosis subprogram using tools that allow the risk to be
recalculated a priori to an individualized risk and to reclassify the population in high genetic risk.
Conclusions: From this study it can be concluded that advanced maternal age constitutes the main criterion for indicating amniocentesis cytogenetic study in high-risk pregnant women in Havana.