Optimization of Non-invasive Prenatal Test Based on Ridge Regression and Turnbull NPMLE
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Abstract
Non-invasive prenatal test (NIPT) can be used for early screening of fetal chromosomal aneuploidy. However, individual variations among pregnant women make it difficult to align with the traditional standardized testing schedule. Testing too early may fail due to insufficient fetal DNA concentration, while testing too late could result in missing the optimal intervention window. In this paper, ridge regression is used as the main model, supplemented by LASSO sparse screening and random forest nonlinear control, and the performance is evaluated by cross-validation. This potential risk is quantified and optimized to develop NIPT testing timing protocols tailored for different pregnant women.
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References
Q. Jiang, J. Deng, L. Liu, et al., “Genetic Diagnosis of Fetal Heart Abnormalities in Prenatal Ultrasound Examination,” Journal of Jinan University (Natural Sciences and Medical Sciences Edition), vol. 46, no. 5, pp. 640–650, 2025.
N. Wu, L. Liao, X. Xu, et al., “Application of echocardiography in the evaluation of fetal cardiac function during the second trimester of gestational diabetes mellitus,” China Maternal and Child Health Care, vol. 40, no. 24, pp. 4649–4653, 2025.
Y. Zhang, B. Wang, Q. Zhang, et al., “Research on the Diagnostic Value of MRI Combined with Ultrasonography for Fetal Thoracic Abnormalities,” Research on CT Theory and Application, vol. 34, no. S1, pp. 119–122, 2025.
Y. Lv, X. Qin, and W. Zhu, “Diagnostic efficacy of prenatal ultrasound screening for fetal developmental abnormalities,” Imaging Research and Medical Applications, vol. 9, no. 24, pp. 104–106, 2025.
M. Huang, Q. Chen, and L. Zeng, “Genetic Diagnosis and Pregnancy Outcomes Analysis of 165 Cases of Fetal Cervical Translucency Thickening,” Journal of Qiqihar Medical University, vol. 46, no. 22, pp. 2126–2130, 2025.
J. Li, Y. Wang, Q. Gong, et al., “Application of scalable non-invasive prenatal testing technology in prenatal screening for fetal chromosomal copy number variations,” Hainan Medical Journal, vol. 36, no. 22, pp. 3301–3305, 2025.
Z. Wei, Y. Y. Hong, and X. Huan, “Analysis of the Prenatal Ultrasonography Diagnostic Value of the Abnormality of the Inferior Vena Cava in Fetus,” Medical Information, vol. 38, no. 22, pp. 161–164, 2025.
C. Lizhen, W. Yi, and W. Jing, “MRI imaging features and classification diagnostic value of fetal corpus callosum anomalies,” China CT and MRI Journal, vol. 23, no. 11, pp. 9–11, 2025.
M. Wang, “Correlation between Nuchal Translucency Thickness in Early Pregnancy and Prenatal Diagnosis Results and Pregnancy Outcomes,” Image Research and Medical Applications, vol. 9, no. 22, pp. 56–58+61, 2025.
F. Zeng, C. Xiao, and S. Xiang, “The Application Value of Continuous Segmental Scan of Fetal Abdominal Veins in the Diagnosis of Abnormalities of Fetal Abdominal Veins,” Journal of Medical Imaging, vol. 35, no. 10, pp. 141–144, 2025.
Q. Yao, “Diagnostic efficacy of prenatal four-dimensional color Doppler ultrasound (HD-flow) combined with two-dimensional ultrasound in detecting congenital cardiac anomalies in fetuses,” Harbin Pharmaceutical, vol. 45, no. 5, pp. 102–104, 2025.
R. Guo, “Ultrasonographic diagnosis and prognosis analysis of nasal bone absence or dysplasia in early pregnancy,” China Medical Device Information, vol. 31, no. 20, pp. 19–22, 2025.
Z. Lin, “Prenatal ultrasound diagnostic imaging features and significance of fetal lateral ventricular anomaly and related diseases with abnormal neuronal migration,” Heilongjiang Medical Journal, vol. 38, no. 5, pp. 1200–1202, 2025.
C. Zhang and X. Hu, “Karyotype analysis of amniotic fluid chromosomes in 2357 pregnant women in Wuhan Maternal and Child Health Hospital,” Journal of Molecular Diagnostics and Therapeutics, vol. 17, no. 10, pp. 2024– 2026, 2025.
D. Qi, D. Zhang, N. Ye, et al., “Clinical Value of Prenatal Ultrasound Measurement of Fetal Lateral Ventricular Width and Posterior Cranial Fossa Pool Width in the Diagnosis of Neurological Abnormalities,” Journal of Clinical Ultrasound Medicine, vol. 27, no. 9, pp. 741–747, 2025.
J. Li, “Diagnostic value of ultrasound soft indicators combined with sero-logical indicators for fetal chromosomal abnormalities in early and mid-pregnancy,” Modern Medical Imaging, vol. 34, no. 9, pp. 1740–1743, 2025.
X. Liu, J. Zhang, M. Cheng, et al., “Genetic Analysis and Ultrasonographic Characteristics of Fetal Congenital Malformations of the Umbilical Vein-Portal Vein System,” Journal of Hebei Medical University, vol. 46, no. 9, pp. 1064–1069, 2025.
H. Dong, S. Liu, and Z. Yin, “Comparative Analysis of the Application Value of CMA and CNV-seq in Prenatal Diagnosis of Fetal Chromosomal Abnormalities,” China Journal of Eugenics and Genetics, vol. 33, no. 9, pp. 2023–2027, 2025.
Z. Zeng, W. Huang, Z. Gan, et al., “The Application Value of CNV-seq Sequencing Technology in Prenatal Diagnosis Indications,” China Journal of Prenatal Diagnosis (Electronic Edition), vol. 17, no. 3, pp. 9–12, 2025.
Z. Wei, L. Wang, and J. Mao, “Analysis of 333 Cases of NT Thickening and Prenatal Diagnosis Results,” China Journal of Prenatal Diagnosis (Electronic Edition), vol. 17, no. 3, pp. 21–26, 2025.