Prenatal screening for chromosomal abnormalities serves as a cornerstone in early detection of genetic disorders and aids in critical obstetric decision-making. The present study aimed to assess the prevalence, diagnostic yield, and clinical significance of chromosomal abnormalities among pregnant women referred for prenatal diagnosis in Central Gujarat. A total of 43 prenatal samples, including amniotic fluid, chorionic villi, and cord blood, were analyzed using standard cytogenetic techniques such as G-banded karyotyping, followed by molecular confirmation in selected cases. Detailed maternal and clinical histories were recorded to evaluate the association between abnormal results, maternal age, and screening indications. The study revealed an overall incidence of chromosomal abnormalities of 2.15%. Among the identified cases, trisomy 21 (Down syndrome) was the most prevalent, followed by trisomy 18 (Edward syndrome) and trisomy 13 (Patau syndrome).

The frequency of abnormalities was notably higher in pregnancies referred due to abnormal ultrasonographic markers and positive biochemical screening results. Community-wise distribution indicated a higher prevalence among the Patel and OBC populations, suggesting potential demographic influences. Furthermore, maternal age above 35 years showed a significant correlation with chromosomal abnormalities, emphasizing the importance of risk-based prenatal testing. This study underscores the critical role of cytogenetic and molecular diagnostic techniques in the accurate detection of fetal chromosomal disorders. Integration of these laboratory approaches with routine prenatal screening can improve diagnostic precision, facilitate timely genetic counseling, and enhance maternal–fetal outcomes. Strengthening laboratory-based prenatal diagnostic programs and promoting awareness about early screening can significantly reduce the incidence of undiagnosed chromosomal abnormalities in the community, contributing to better public health and reproductive care standards.

Ankita R Bhatiya is currently serving as an Associate Professor in the Department of Medical Laboratory Technology at Smt.LP Patel Institute of Allied Health Sciences & Technology, Bhaikaka University, Karamsad, Gujarat, India. With over 13 years of academic and research experience, she has made significant contributions to the fields of Clinical Pathology, Hematology, Immunohematology, and Cytogenetics. She holds a Ph.D. in Medical Laboratory Technology, with her doctoral research focusing on the “Prevalence and Diagnostic Significance of Chromosomal Abnormalities in Prenatal Screening.” Her research interests include prenatal genetics, cytogenetic abnormalities, and laboratory-based diagnostic innovations. She has published more than 12 research papers and two book chapters in reputed national and international journals and has guided postgraduate dissertations in Medical Laboratory Technology. Her excellence in research and teaching has been recognized through multiple accolades, including the International Best Researcher Award (ISTRA 2024) and the National Science Day Award. Beyond academics, she actively participates in institutional committees such as IQAC, Academic, and Health Humanities. She continues to inspire students and peers through her dedication to quality education, research innovation, and laboratory excellence.