A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

Abstract

This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center. Our cohort of 491 CVS was mostly performed by the transcervical method at the 12th gestational week. Data collected within the framework of this study relate to the following: sampling method, referral reason versus abnormality and incidence of procedure-related pregnancy loss, that declined to about 0.5% over the last 15 years. The year 2000 represented a change in referral reasons for chorionic tissue collection, shifting from almost exclusively for cytogenetic testing to an increasing number of molecular tests for monogenic disorders. Herein, success rates as well as cytogenetic and/or molecular DNA results are presented. These latter include not only tests for several monogenic disorders, but also aneuploidy and maternal cell contamination screening. This retrospective analysis reiterates that CVS is a safe and reliable first trimester technique for prenatal diagnosis in high genetic risk pregnancies.

Prenatal diagnosis of rare genetic conditions at a tertiary care hospital Karachi

“…CVS is a preferred method as the amount of DNA extracted is more as compared to Amniocentesis. 11,12 It has a miscarriage rate comparable to amniocentesis in expert hands. 13,14 This study describes the spectrum of rare genetic disorders and their diagnosis at our Foetal Medicine unit in collaboration with Paediatric Geneticist and Laboratory.…”