Diagnostic accuracy of cell-free DNA-based non-invasive prenatal testing for fetal aneuploidies: a systematic review.

cfDNA-based non-invasive prenatal testing achieves 100% sensitivity and specificity for Trisomy 21, demonstrating high accuracy in detecting common fetal aneuploidies.

• Why it matters: Accurate, safe prenatal screening methods are crucial for early diagnosis of fetal aneuploidies, reducing reliance on invasive procedures that carry risks.
• What they did: A systematic review of 20 studies involving over 67,500 individuals assessed cfDNA NIPT's diagnostic performance for T21, T18, T13, SCA, and CNVs, comparing results with invasive tests.
• The result: The review confirms cfDNA NIPT as highly effective for trisomy detection, especially T21, but highlights limitations in detecting SCA and CNVs, emphasizing the need for counseling and standardized protocols.