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.
Highlights
In the early 1980s, unlike the prevailing tendency in other European countries, prenatal testing had not been implemented in Portugal
Even though a quality ultrasound had enabled chorionic villus sampling (CVS) to attain a high-level of efficacy and safety, with the advantage that it can be carried out earlier than amniocentesis (9–13th gestational week), procedure-related complications are emphasized to the parents
The rate of CVS-related pregnancy loss, defined as fetal loss occurring within 15 days after the procedure, in the first sixteen years exceeded by 2.6% that obtained in the last decade
Summary
In the early 1980s, unlike the prevailing tendency in other European countries, prenatal testing had not been implemented in Portugal. Ethical and political disputes, it was in May 1984 that the Portuguese government approved a law that “excludes the illicitness of the voluntary termination of pregnancy for genetic causes”, enabling the beginning of PND at the CGM. This was a landmark for the progress in the fetal diagnosis of genetic disorders in Portugal. Our Center was initially a nationwide service provider, but later become essentially regional as further PND facilities were set up in other parts of the country [1,2]
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