Ashok Mhankale
Assistant Professor, Department of Obstetrics and Gynaecology, Rural Medical College and Hospital, Loni
Abstract
Background: Non-invasive prenatal testing (NIPT) has revolutionized the management of pregnancy by providing a safer alternative to traditional invasive prenatal diagnostic procedures like amniocentesis. NIPT primarily analyzes cell-free DNA from maternal blood to detect chromosomal abnormalities such as Down syndrome (trisomy 21), trisomy 18, and trisomy 13 with high sensitivity and specificity. However, its clinical impact in reducing the need for invasive procedures and its role in pregnancy management requires further investigation.
Objective: This case-control study aims to evaluate the clinical outcomes of NIPT in pregnancy management, specifically assessing its effect on reducing the number of invasive procedures performed and its predictive value for chromosomal abnormalities.
Methods: A case-control study was conducted at a tertiary care center, including 300 women who underwent NIPT. The control group consisted of 300 women who had traditional screening methods, such as the combined first-trimester screening (nuchal translucency, PAPP-A, and free β-hCG). Pregnancy outcomes, including the number of invasive diagnostic tests (amniocentesis or chorionic villus sampling) and the detection of chromosomal abnormalities, were compared between the two groups.
Results: The use of NIPT significantly reduced the number of invasive procedures compared to the traditional screening method (10% vs. 35%, p < 0.05). NIPT also demonstrated higher sensitivity (99%) and specificity (98%) for trisomy 21 compared to conventional screening.
Conclusion: NIPT offers a highly accurate and safer alternative to traditional screening, reducing the need for invasive diagnostic procedures while maintaining high detection rates for chromosomal abnormalities.
Keywords: non-invasive prenatal testing, pregnancy management, chromosomal abnormalities, trisomy 21, prenatal screening, invasive procedures.