ADVANCING PRENATAL TESTING: NON-INVASIVE ANEUPLOIDY SCREENING IN HIGH-RISK PREGNANCIES
Main Article Content
Keywords
Prenatal testing, non-invasive screening, high-risk pregnancies
Abstract
Introduction: Maternal-fetal health is a critical facet of prenatal care, with advancements in screening technologies continually shaping the landscape of diagnostic approaches. High-risk pregnancies, characterized by factors such as advanced maternal age, necessitate enhanced and non-invasive screening methods to assess the risk of chromosomal abnormalities.
Objective: To study the prenatal testing by evaluating the accuracy and reliability of non-invasive aneuploidy screening in high-risk pregnancies.
Methodology: The study employed a robust methodology, involving the recruitment of high-risk pregnant individuals based on specific criteria, including advanced maternal age, pertinent medical history, and prior pregnancy outcomes. Blood samples collected in early pregnancy underwent detailed analysis using state-of-the-art sequencing technologies, such as Illumina, Ion Torrent, and PacBio. Statistical analyses, including sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and regression analyses, were conducted to provide a comprehensive assessment of the screening method.
Results: Preliminary results from our non-invasive aneuploidy screening demonstrate a robust sensitivity of 94.2%, specificity of 96.8%, positive predictive value (PPV) of 89.5%, and negative predictive value (NPV) of 97.3%. Comparative analysis with traditional invasive procedures reveals a strong concordance rate of 94.7%, validating the efficacy of the non-invasive approach. In terms of cost-effectiveness, the total test costs amount to Rs. 412,500, with anticipated healthcare savings of Rs. 1,375,000. The overall economic impact, balancing costs and potential savings, stands at Rs. 962,500. Regression analyses identify a significant association between advanced maternal age and positive screening results (p-value = 0.021), providing essential insights for personalized risk assessment in high-risk pregnancies. These findings underscore the effectiveness, economic feasibility, and personalized utility of non-invasive aneuploidy screening in prenatal care.
Conclusion: This study establishes the efficacy and reliability of non-invasive aneuploidy screening in high-risk pregnancies, providing accurate and comparable results to traditional invasive procedures. The findings contribute to personalized risk assessment and support the ongoing evolution of prenatal testing methods. The integration of advanced sequencing technologies and meticulous statistical analyses ensures the robustness of this research, fostering confidence in the potential broader adoption of non-invasive screening in the context of high-risk pregnancies.
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Shahida Hashim Marwat
Consultant Obstetrician and Gynaecologist, Garrison Medical Centre Sargodha, Pakistan
Saima Nadeem
Senior Registrar, United Medical and Dental College, Pakistan
Sumaiya Khan
PMDC No: 782740-01-M, Services Institute of Medical Sciences Lahore, Pakistan
Madiha Afzal
Associate Professor, Department of Obstetrics & Gynaecology, Rashid Latif Medical Complex Lahore, Pakistan
Uzma Aziz
Associate Professor, Department of Obstetrics & Gynaecology, Rashid Latif Medical Complex Lahore, Pakistan
Kailash Kumar Daseja
MBBS, FCPS, Assistant Professor, Department of Radiology, Shaheed Muhtarma Benazir Bhutto Medical University, Chandka Medical College Hospital, Larkana
Abdulla K. Alsubai
Royal College of Surgeons in Ireland
Akashnath Kivalur Ganeshanath
Royal College of Surgeons Ireland - Medical University of Bahrain
Hafsa Syeda Shuaib
Royal College of Surgeons Ireland - Medical University of Bahrain
Zacarius William Seit
Royal College Surgeons of Ireland