Non-Invasive Prenatal Testing (NIPT) for Fetal Aneuploidy Screening: A Systematic Review of Diagnostic Accuracy

Abstract

Introduction: Non-invasive prenatal testing (NIPT), which analyzes cell-free fetal DNA in maternal blood, has emerged as a screening tool for common fetal aneuploidies. This review assesses its diagnostic accuracy compared to traditional screening methods.

Methods: A systematic review and meta-analysis of prospective cohort studies was performed. We included studies that validated NIPT against a diagnostic gold standard (karyotyping via amniocentesis or CVS). The primary outcomes were the detection rates and false positive rates for Trisomy 21, 18, and 13.

Results: The analysis demonstrated that NIPT has a significantly higher detection rate and a much lower false positive rate for Trisomy 21 compared to traditional first-trimester combined screening. Its performance for Trisomy 18 and 13 was also excellent, though slightly lower than for Trisomy 21.

Discussion: The superior performance of NIPT makes it an excellent primary or secondary screening test for common aneuploidies. Its low false positive rate can significantly reduce the number of unnecessary invasive diagnostic procedures.

Conclusion: Non-invasive prenatal testing is a highly accurate screening method for common fetal aneuploidies, superior to traditional screening tests.