Obstet Gynecol Sci > Volume 67(2); 2024 > Article |
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Ethical approval
This study did not require approval from the Institutional Review Board because no patient data were included. This study was conducted in accordance with the principles of the Declaration of Helsinki.
Study | Study type | cfDNA screening method | Gestational age (weeks) | Number of cases | T21 | Sensitivity for T21 (%) | Specificity for T21 (%) | False-positive rate (%) | cfDNA screening as 1st line test |
---|---|---|---|---|---|---|---|---|---|
Lau et al. [25] (2013) | Prospective | MPSS | 13 (11-20) | 12 | 1 | 100.0 (95% CI, 2.5-100.0) | 100.0 (95% CI, 71.5-100.0) | 0.0 (95% CI, 0.0-28.49) | No |
Huang et al. [26] (2014) | Prospective | MPSS | 19 (11-36) | 189 | 9 | 100.0 (95% CI, 66.4-100.0) | 100.0 (95% CI, 98.0-100.0) | 0.0 (95% CI, 0.0-2.03) | No |
Le Conte et al. [27] (2018) | Prospective | MPSS | 16 (10-35) | 418 | 3 | 100.0 (95% CI, 29.2-100.0) | 99.8 (95% CI, 98.7-100.0) | 0.24 (95% CI, 0.01-1.34) | Mixed |
Yang et al. [28] (2018) | Prospective | MPSS | >9 | 432 | 4 | 100.0 (95% CI, 39.8-100.0) | 100.0 (95% CI, 99.1-100.0) | 0.0 (95% CI, 0.0-0.93) | Mixed |
Gil et al. [29] (2019) | Prospective | Targeted | 11 (10-14) | 997 | 17 | 94.1 (95% CI, 71.3-100.0) | 99.9 (95% CI, 99.4-100.0) | 0.1 (95% CI, 0.0-0.57) | Mixed |
Yu et al. [30] (2019) | Prospective | MPSS | 18 (8-30) | 1,157 | 16 | 100.0 (95% CI, 79.4-100.0) | 100.0 (95% CI, 99.7-100.0) | 0.0 (95% CI, 0.0-0.32) | Mixed |
Garshasbi et al. [31] (2020) | Prospective | MPSS | 15 (10-37) | 443 | 3 | 100.0 (95% CI, 29.2-100.0) | 100.0 (95% CI, 99.2-100.0) | 0.0 | Mixed |
Motevasselian et al. [32] (2020) | Prospective | MPSS | 15.6 | 356 | 2 | 100.0 | 99.7 | 0.28 | Mixed |
Chibuk et al. [33] (2020) | Retrospective | MPSS | 12 (9-34) | 422 | 49 | 98.0 (95% CI, 87.8-99.9) | 96.0 (95% CI, 93.0-97.7) | 3.9 (95% CI, 2.09-6.58) | No |
Khalil et al. [14] (2021) | Prospective | NGS | 14.1 (12.7-18.7) | 958 | 13 | 100.0 (95% CI, 75.0-100.0) | 100.0 (95% CI, 99.6-100.0) | 0.0 (95% CI, 0.0-0.39) | Mixed |
Judah et al. [34] (2021) | Prospective | Targeted | 11 (10-14) | 1,442 | 20 | 95.0 (95% CI, 75.1-100.0) | 0.08 (95% CI, 0.0-0.44) | Mixed | |
Bai et al. [4] (2022) | Retrospective | MPSS | 46.8 (15.9-17.8) | 5,469 | 7 | 100.0 (95% CI, 56.1-100.0) | 0.0 | Yes |
Study | Study type | cfDNA screening method | Number of cases | T18 | Sensitivity for T18 (%) | False positive | False-positive rate (%) |
---|---|---|---|---|---|---|---|
Huang et al. [26] (2014) | Prospective | MPSS | 187 | 2 | 50.0 (95% CI, 1.3-98.7) | 0 | 0.0 (95% CI, 0.0-1.95) |
Le Conte et al. [27] (2018) | Prospective | MPSS | 417 | 1 | 100.0 (95% CI, 2.5-100.0) | 0 | 0.0 (95% CI, 0.0-0.88) |
Yang et al. [28] (2018) | Prospective | MPSS | 399 | 1 | 100.0 (95% CI, 2.5-100.0) | 0 | 0.0 (95% CI, 0.0-0.92) |
Gil et al. [29] (2019) | Prospective | Targeted | 987 | 10 | 90.0 (95% CI, 55.5-100.0) | 1 | 0.1 (95% CI, 0.0-0.56) |
Yu et al. [30] (2019) | Prospective | MPSS | 1,153 | 4 | 100.0 (95% CI, 39.8-100.0) | 0 | 0.0 (95% CI, 0.0-0.32) |
Garshasbi et al. [31] (2020) | Prospective | MPSS | 442 | 1 | 100.0 (95% CI, 2.5-100.0) | 0 | 0.0 (95% CI, 0.0-0.83) |
Chibuk et al. [33] (2020) | Retrospective | MPSS | 361 | 24 | 100.0 (95% CI, 85.8-100.0) | 4 | 1.11 (95% CI, 0.30-2.81) |
Khalil et al. [14] (2021) | Prospective | NGS | 957 | 1 | 0.0 (95% CI, 0.0-98.0) | 1 | 0.1 (95% CI, 0.0-0.58) |
Judah et al. [34] (2021) | Prospective | Targeted | 1,262 | 10 | 90.0 (95% CI, 55.5-99.7) | 0 | 0.0 (95% CI, 0.0-0.29) |
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