Sarthi Kabrawala^1,2, Mohd Tariq¹*, Gunwant Chaudhri² and Rakesh Kumar²

¹Department of Life Sciences, Parul Institute of Applied Sciences, Parul University, Vadodara, Gujarat-391760, India
²Department of Anatomy, Zydus Medical College and Hospital, Dahod, Gujarat-389151, India

*Corresponding Author: Mohd Tariq, Department of Life Sciences, Parul Institute of Applied Sciences, Parul University, Vadodara, Gujarat-391760, India.

Received: April 22, 2025; Published: June 23, 2025

Abstract

Genetic disorders pose significant public health concerns due to their impact on individuals and healthcare systems. Early prenatal screening plays a crucial role in identifying chromosomal abnormalities, enabling timely intervention. This study examines the prevalence of genetic disorders and their correlation with antenatal check-ups in hospitals of Dahod, Gujarat.

A retrospective observational study was conducted using antenatal check-up reports from hospitals in Dahod. Data from 306 pregnant women aged 18–51 years were analyzed. Non-invasive prenatal testing (NIPT) was employed to detect chromosomal abnormalities, including Trisomy 21 (T21), Trisomy 18 (T18), and Trisomy 13 (T13). Additional confirmatory methods, such as karyotyping and chromosomal microarray analysis, were utilized. Data analysis was performed using SPSS statistical version 20.

Among the 306 participants, 7 cases (2.2%) were NIPT-positive, including 6 cases of T21, 1 case of T18, and no cases of T13. A significant association was observed between advanced maternal age and an increased prevalence of chromosomal abnormalities (p < 0.05). Follow-up data revealed that one case resulted in pregnancy termination, while another led to spontaneous abortion.

NIPT demonstrated high sensitivity and specificity in detecting fetal chromosomal abnormalities, reinforcing its value in prenatal screening. However, false-positive rates highlight the necessity for confirmatory diagnostic tests. Advanced maternal age was recognized as a key risk factor for genetic disorders, underscoring the importance of routine antenatal check-ups.

This study emphasizes the significance of prenatal screening in reducing the prevalence of genetic disorders. Raising awareness among pregnant women and integrating genetic counselling into antenatal care can enhance early diagnosis and improve pregnancy outcomes. Future research should focus on expanding follow-up studies to further validate these findings.

 Keywords: Prenatal Screening; Genetic Disorders; Chromosomal Abnormalities; Non-Invasive Prenatal Testing (NIPT); Antenatal Check-Ups; Pregnancy Outcomes; Genetic Counselling

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Citation

Citation: Mohd Tariq., et al. “Prevalence of Genetic Disorders and the Role of Prenatal Screening: A Retrospective Study in Dahod, Gujarat”.Acta Scientific Medical Sciences 9.7 (2025): 80-84.

Copyright

Copyright: © 2025 Mohd Tariq., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.