How Accurate is NIPT as a Screening Test for Chromosomal Aneuploidies?
This study by Gil et al. (Ultrasound in Obstetrics and Gynecology, 2015) reviewed and analyzed studies on cfDNA screening for fetal trisomies 21, 18, and 13, and sex chromosome aneuploidies, now including results through January 2015.
Systematic Review and Meta-Analysis
37 studies were included in this meta-analysis. Singleton pregnancies were analyzed separately from twin pregnancies. In singleton pregnancies, Detection rates (DR) and false-positive rates (FPR) for trisomy 21 were 99.2% (95% CI, 98.5-99.6%) and 0.09% (95% CI, 0.05-0.14%), respectively; for trisomy 18 rates were 96.3% (95% CI, 94.3-97.9%) and 0.13% (95% CI, 0.07-0.20) respectively; for trisomy 13 rates were 91.0% (95% CI, 85.0-95.6%) and 0.13% (95% CI, 0.05-0.26%) respectively. For monosomy X (Turner syndrome), DR and FPR rates were 90.3% (95% CI, 85.7-94.2%) and 0.23% (95% CI, 0.14-0.34%) respectively. Sex chromosome aneuploidies other than monosomy X rates were 93.0% (95% CI, 85.8-97.8%) and 0.14% (95% CI, 0.06-0.24%). In twin pregnancies, for trisomy 21, DR and FPR were 93.7% (95% CI, 83.6-99.2%) and 0.23% (95% CI, 0.00-0.92%) respectively. Accuracy of cfDNA remains highest for trisomy 21 and also performs well in twins for this chromosomal disorder. cfDNA for monosomy X has weaker performance characteristics compared to other aneuploidies. These data again confirm the importance of diagnostic testing to confirm all cfDNA screening results.
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