Retrospective analysis of non-invasive prenatal testing results in 8237 pregnant women in Luohe District

Abstract Background Non-Invasive Prenatal Testing (NIPT) has gained extensive adoption worldwide for screening chromosomal abnormalities like trisomy 21. Nevertheless, controversies persist surrounding the screening efficacy of NIPT among diverse risk groups of pregnant women and its capability to detect sex chromosome aneuploidies. This study evaluates the screening performance of NIPT for various risk groups of pregnant women and its efficacy in detecting sex chromosome aneuploidies by retrospectively analyzing the NIPT results of 8,237 pregnant women in the Luohe region of China. Methods A total of 8237 cases of NIPT screening conducted between January 2020 and June 2023 in the Luohe region were analyzed. This study examined the clinical data, screening results, prenatal diagnostic outcomes, and follow-up results to evaluate the efficacy of NIPT using indicators such as positive predictive value, false positive rate, false negative rate, sensitivity, and specificity. Discrepancies in NIPT positivity rates among pregnant women with different risk factors and the screening efficacy of NIPT for autosomal aneuploidies and sex chromosomal aneuploidies were compared. Results Among 8237 pregnant women screened, 114 cases (1.38%) were identified as high-risk for chromosomal aneuploidies. All NIPT-positive pregnant women received fetal chromosomal results through amniocentesis chromosomal karyotype or fetal genetic testing after miscarriage. The positive rate of NIPT in the high-risk factor group was not statistically different from that in the moderate-risk factor group, but both were higher than in the low-risk factor group. The positive rate of NIPT increased with maternal age. NIPT demonstrated a positive predictive value, false positive rate, sensitivity, and specificity of 52.63% (60/114), 0.66% (54/8177), 100.00% (60/60), and 99.34% (8123/8177), respectively, for detecting chromosomal aneuploidies. Although the positive predictive value of NIPT for sex chromosome aneuploidies was lower than that for autosomal aneuploidies, there were no statistically significant differences in sensitivity, false positive rate, and other parameters. Conclusions NIPT is effective in screening for fetal aneuploidies involving both autosomes and sex chromosomes.