Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis.

Abstract

Purpose: Despite the rapid expansion of noninvasive genomic technologies, invasive procedures such as chorionic villus sampling (CVS) remain indispensable for providing definitive, early prenatal genetic diagnoses. This study aimed to assess the diagnostic value and effectiveness of CVS in the early detection of chromosomal and genetic abnormalities in a cohort of 912 Polish women.

Patients and methods: This retrospective cohort study included 912 CVS procedures performed between 2010 and 2024 at a tertiary referral center. Indications, sampling success rates, and genetic results were analyzed. Fetal samples were examined using conventional karyotyping, chromosomal microarray analysis, and digital PCR.

Results: Of 912 procedures, 903 (99.0%) were technically successful, with 844 included in the final cytogenetic analysis. The most common indication was abnormal ultrasound findings (79.9%). Chromosomal abnormalities were found in 40.05% of cases, with trisomy 21 (16.8%), trisomy 18 (8.8%), trisomy 13 (3.1%) and monosomy X (4.6%) being the most frequent. Mosaicism was detected in 8 cases, and maternal cell contamination in 9.

Conclusion: CVS is a valuable method of early prenatal genetic diagnosis, especially in high-risk pregnancies, where early and personalized genomic assessment can have a significant impact on clinical decision-making. Emerging genomic technologies are likely to complement CVS, underscoring its continued relevance in genomic medicine and personalized prenatal care.