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. 2022 Oct 5;14(10):e29965. doi: 10.7759/cureus.29965

Table 4. Studies associated with cffDNA analysis of aneuploidies.

SPR: Slide positivity rate, PPV: Positive predictive value, SCA: Sex chromosomal abnormalities

Article/ study Sample size Result 
Lai et al. [24] 86,193 pregnant females with reportable results SPR: 0.6%, PPV (SCA): 38%, i.e., n=505 Sensitivity:  45, X: 88.46%; 47, XXY: 100%; 47, XXX: 100%; 47, XYY: 100%
Lu et al. [25] 222,107 pregnant females with reportable results PPV: 45, X: 18.14%; 47, XXY: 80.29%; 47, XXX: 58.73%; 47, XYY: 71.19%
Margiotti et al. [26]   9,985 pregnant females with reportable results SCA Incidence: 0.31%, i.e., 31 positive cases of which 77.3% were true positive, i.e., 17 true positive cases out of which 45, X: 53%; 47, XXY: 23.5 %; 47, XXX: 17.6%; 47, XXY: 5.9%