Effects of Maternal Factors on Fetal Aneuploidy and Reliability of Screening: A Cohort Study Based on 12,186 Karyotype Reports

Objective: Retrospective analysis of maternal risk factors for fetal aneuploidy and evaluation of the clinical value of prenatal screening. Methods: The information of pregnant women was collected, and the OR value, authenticity index and prediction value index were calculated. Results: A total of 12,186 analysable karyotype reports were collected, and 372 cases(3.05%) of fetal aneuploidy were found, including T21 161 cases(1.32%), T18 81 cases(0.66%), T13 41 cases(0.34%), and SCAs 89 cases(0.73%). Maternal age <20 years old has the highest OR(6.65), followed by ≥40(3.59) and 35-39(2.48). History of fetal malformation has the highest OR(35.94), followed by IVF-ET(17.04) and RSA(13.08). The sensitivity of the preliminary screening was 73.24%, and the NPV was 98.23%. The TPR of NIPT was 100.00%, and the PPV for T21, T18, T13, and SCAs was 89.92%, 69.77%, 53.49%, and 43.24%. The reliability of NIPT and gestational age(0.81) are positively correlated, while had a negative correlation with maternal age(1.12) and the history of IVF-ET. Conclusion: Our results support the correlation between maternal risk factors and fetal aneuploidy & reliability of screening. The above conclusions provide a reliable theoretical basis for developing prenatal screening strategies and improving reproductive health.