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

Urszula Wysocka,1 Jolanta Stępniewska,1 Magdalena Kozłowska,1 Agata Kucińska,1 Patrycja Banaś-Leżańska,1 Wojciech Ałaszewski,1 Lech Dudarewicz,1 Piotr Kaczmarek,2 Mariusz Stanisław Grzesiak,3 Agnieszka Gach1 1Department of Genetics, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland; 2Clinic of Gynecology, Reproduction and Fetal Therapy and Infertility Diagnostics and Treatment, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland; 3Clinic of Perinatology, Obstetrics and Gynecology, Polish Mother’s Memorial Hospital Research Institute, Lodz, PolandCorrespondence: Urszula Wysocka, Department of Genetics, Polish Mother’s Memorial Hospital Research Institute, Rzgowska 281/289, Łódź, 93-338, Poland, Email urszula.wysocka@iczmp.edu.plPurpose: 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.Keywords: prenatal diagnosis, chromosomal abnormalities, molecular techniques, high-risk pregnancy, early detection, personalized medicine