Role of Chorionic Villus Sampling in Contemporary Prenatal Invasive Diagnosis: A Retrospective Observational Study

Background: Chorionic Villus Sampling (CVS) is a key prenatal diagnostic procedure for early detection of genetic abnormalities in high-risk pregnancies. This study evaluates the clinical indications, safety profile and diagnostic outcomes of CVS in a tertiary care setting. Methods: A retrospective analysis was conducted on 81 pregnant women who underwent CVS at the Fetal Medicine Unit, Department of Obstetrics and Gynecology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, between June 2022 and May 2024. Demographic characteristics, clinical indications, gestational age at procedure, genetic test results and pregnancy outcomes were reviewed. Descriptive statistics were used to assess the frequency of indications and complication rates. Results: Among 627 invasive procedures, 81 (12.9%) were CVS. Most procedures were performed in women aged 25-29 years (39.5%) and at 12-14 weeks of gestation (84.0%). The most common indication was both parents being β-thalassemia carriers with a previously affected child (30.86%), followed by increased nuchal translucency >99th percentile (19.75%). CVS detected β-thalassemia major, Trisomy 21, Trisomy 18, Meckel-Gruber syndrome and Jacob syndrome in 5 (6.25%), 4 (5%), 1 (1.25%), 1 (1.25%) and 1 (1.25%) fetuses, respectively. The diagnostic yield was 15%, with 12 abnormal results among 80 successfully analyzed samples. No procedure-related miscarriages were observed. However, 11 women (13.75%) opted for medical termination of pregnancy following abnormal genetic diagnoses. Conclusion: In this cohort, chorionic villus sampling enabled early identification of clinically significant chromosomal and monogenic disorders, with abnormal genetic findings reported in 12 of 80 successfully analyzed samples (15%). No procedure-related miscarriages were documented during the study period. These findings highlight the clinical utility of CVS in pregnancies at increased genetic risk and its contribution to informed pregnancy management. However, the findings should be interpreted in the context of the retrospective design and limited sample size. Larger multicenter studies are needed to further evaluate diagnostic outcomes and procedural safety.