Indications and results of prenatal invasive diagnosis (amniocentesis, chorionic villus sampling, cordocentesis): A tertiary center experience

Abstract

Objective: To evaluate the indications for prenatal invasive procedures and karyotype results in pregnant women Materials and Methods: We conducted a retrospective analysis of the indications and karyotype results of pregnant women who opted for invasive diagnostic testing in a tertiary center between September 2022 and May 2023. Results: Of the 331 patients who underwent prenatal genetic diagnosis, 267 underwent amniocentesis (80.7%), 62 underwent chorionic villus sampling (18.7%), and 2 underwent cordocentesis (0.6%). The most common indication for amniocentesis was an elevated risk in first-trimester screening tests (29.6%). Chorionic villus sampling was most frequently performed due to an increased risk in the first-trimester screening test (37.1%) and because of an increased nuchal translucency (37.1%). Cordocentesis was exclusively performed in cases of abnormal second-trimester ultrasound examinations. Trisomy 21 was most frequently detected in cases with increased nuchal translucency (13.3%). Conclusions: The importance of invasive prenatal diagnostic procedures for the early detection and diagnosis of genetic disorders and the assessment of fetal health is evident. However, the decision to undergo these procedures should be made thoughtfully, with careful consideration of patient counselling and informed consent.