ADVANCING PRENATAL TESTING: NON-INVASIVE ANEUPLOIDY SCREENING IN HIGH-RISK PREGNANCIES
Main Article Content
Keywords
Trisomy 21, high-risk pregnancy, fetal aneuploidy, non-invasive prenatal testing, and prenatal screening.
Abstract
Non-invasive prenatal testing (NIPT) has further advanced the idea of prenatal screening through the accurate identification of fetal aneuploidies. It is most effective for women who are considered to be at high-risk pregnancies to eliminate the use of invasive procedures.
Objectives: This study assesses the efficiency of the NIPT technology in the identification of trisomy 21, 18, and 13 in high-risk pregnancies concerning the sensitivity, specificity, and positive predictive value.
Materials and Methods: The current study was a hospital-based prospective study conducted at Department of Obstetrics and Gynaecology, Sir Ganga Ram Hospital / Fatima Jinnah Medical University Lahore, Pakistan from January 2024 to June 2024. Two hundred fifty high-risk pregnant women only got NIPT done and diagnostic tests among the positive ones. Sensitivity, specificity, and predictive values were analyzed.
Results: In terms of efficiency NIPT has high sensitivity since it disclosed 100% of trisomy 21, 88.9% of trisomy 18, and 50% of trisomy 13 while the specificity was 97.8%. Limitations of this research indicated that there were false positive cases that should undergo further testing.
Conclusion: NIPT can be helpful in high-risk pregnancies. It helps in the elimination of invasive procedures while improving the accuracy of detection of aneuploidies.
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
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Surraya Israr
Associate Professor, Department of Gyne Obs, GKMC /BKMC Swabi KPK, Pakistan
Hina Akhtar
Assistant Professor, Department of Obstetrics and Gynaecology, Sir Ganga Ram Hospital / Fatima Jinnah Medical University Lahore, Pakistan
Zainab Asghar
Consultant Gynaecologist, THQ Hospital Pindibhattian, Pakistan
Muhammad Ahmad Albajuri
enior Registrar, Department of Obstetrics and Gynecology, Neom hospital / Saudi Arabia
Iffat Jabeen
Senior Registrar, Gynae Unit 2, Jinnah Hospital Lahore, Pakistan
Mukhzarah Nasr Chaudhry
Senior Registrar, Chaudhry Muhammad Akram Teaching and Research Hospital,Azra Naheed Medical College, Lahore, Pakistan