Avaluació del programa de cribratge d’aneuploïdies bioquímicecogràfic de l’any 2017 i plantejament de possibles accions de millora

Abstract

Congenital defects can be caused by chromosomal anomalies, which are classified in numerical or structural abnormalities, depending on whether they affect, if may affect the number of chromosomes or their structure. For the correct detection of these defects before birth prenatal diagnosis is used, which allow detection in the fetus. Prenatal screening is technique that shows the pregnant women if there is a risk of suffering an aneuploidy over the total number of pregnant women in the population. Subsequently, this risk can be confirmed by a diagnostic test in cases where the risk increases. The main objective of this study is the preparation of the evaluation report of the screening program for the year 2017 at the “Laboratori Clínic Territorial de Girona” based on the calculated screening and their origin, the monitoring of positive screenings, the results of the pathological karyotypes and an analysis of the quality indicators. In addition, an analysis of the reasons for the not calculated screening due to lack of the ecography searching for possible improvement actions through the writing of a report to Obstetrics services. And finally, an analysis of how can affect the activity the implementation of the aneuploidies prenatal screening by fetal DNA in maternal blood according to the diagnostic algorithm approved by CatSalut in 2017, and the Head of Service of the “Laboratori Clínic Territorial de Girona”. More over with the analysis results, the main origins and the number of abnormal karyotypes that occurred in 2017 have been identified. The sensitivity and specificity of the aneuploidy screening program in this laboratory has also been evaluated. In addition, it was possible to identify the main reasons for the 265 screenings that were not calculated by pending ultrasound and we studied possible actions to improve the results obtained. Finally, it has been verified that the implementation of the aneuploidies screening by fetal DNA in maternal blood would mean the increase in activity and also the reduction of the number of false negatives and therefore a greater detection of a trisomy