Combined Model-Based Prediction for Non-Invasive Prenatal Screening
Abstract
:1. Introduction
2. Results
2.1. Basic Information on the Study Samples
2.2. Features of a Pregnanncy-Affecting Fetal Fraction
2.3. Factors Affecting the Z-Score of NIPT
2.4. NIPT Results of the Three Methods
2.5. Logistic Regression with Parameters Using Z-Scores, GC Content, and Fetal Fraction
3. Discussion
4. Materials and Methods
4.1. Sample Preparation and Sequencing
4.2. Shallow NGS Data Analysis
4.3. NIPT Analysis
4.4. Logistic Regression
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Characteristic | Reference Set (n = 1698) | Test Set (n = 109) |
---|---|---|
GA at NIPT (weeks) | ||
First trimester (6–13) | 1594 | 89 |
Second trimester (14–27) | 104 | 20 |
Maternal age (years) | ||
20–29 | 54 | 3 |
30–39 | 1314 | 79 |
≥40 | 330 | 27 |
Advanced maternal age (≥35 years) | 1291 | 85 |
BMI | ||
<18.5 | 140 | 12 |
18.5–25 | 1293 | 81 |
25–30 | 213 | 9 |
≥30 | 52 | 7 |
Pregnancy | ||
Singleton | 1623 | 105 |
Twin | 75 | 4 |
Secondary outcomes | ||
Trisomy 18 | 5 | |
Trisomy 21 | 33 |
Accuracy | Sensitivity | Specificity | PPV | NPV | |
---|---|---|---|---|---|
STD | 0.960 | 0.947 | 0.962 | 0.766 | 0.993 |
NCV | 0.960 | 0.974 | 0.958 | 0.755 | 0.996 |
WSRB | 0.966 | 0.947 | 0.969 | 0.800 | 0.993 |
Accuracy | Sensitivity | Specificity | PPV | NPV | |
---|---|---|---|---|---|
3 parameters | 0.991 | 0.947 | 0.997 | 0.973 | 0.993 |
5 parameters | 0.982 | 0.947 | 0.986 | 0.900 | 0.993 |
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Yang, S.-Y.; Kang, K.M.; Kim, S.-Y.; Lim, S.Y.; Jang, H.Y.; Hong, K.; Cha, D.H.; Shim, S.H.; Joung, J.-G. Combined Model-Based Prediction for Non-Invasive Prenatal Screening. Int. J. Mol. Sci. 2022, 23, 14990. https://doi.org/10.3390/ijms232314990
Yang S-Y, Kang KM, Kim S-Y, Lim SY, Jang HY, Hong K, Cha DH, Shim SH, Joung J-G. Combined Model-Based Prediction for Non-Invasive Prenatal Screening. International Journal of Molecular Sciences. 2022; 23(23):14990. https://doi.org/10.3390/ijms232314990
Chicago/Turabian StyleYang, So-Yun, Kyung Min Kang, Sook-Young Kim, Seo Young Lim, Hee Yeon Jang, Kirim Hong, Dong Hyun Cha, Sung Han Shim, and Je-Gun Joung. 2022. "Combined Model-Based Prediction for Non-Invasive Prenatal Screening" International Journal of Molecular Sciences 23, no. 23: 14990. https://doi.org/10.3390/ijms232314990