PDF(Pubmed)
Abstract：
To determine the association between cell-free DNA fetal fraction (cffDNA) and various prenatal characters to better guide the clinical application of noninvasive prenatal screening (NIPS), a retrospective cohort study of 27,793 women with singleton pregnancies was conducted. Results indicated that no significant difference on cffDNA between trisomy/sex chromosome aneuploidy (SCA) and non-trisomy groups was found. However, the fetal fraction (FF) in the T18 and T13 subgroups were significantly lower than that in the non-trisomy group, while the FF in the T21 group was significantly higher than the non-trisomy group. Pearson\'s correlation analysis revealed a positive correlation between √FF and gestational week in the T21, SCA, and non-trisomy groups. A negative correlation between maternal age and √FF in T21 and non-trisomy cases was found, but a positive correlation in SCA group. Compared to the decreasing trend in FF in the T21 group, no significant difference was observed in the SCA group. The √FF level was negatively correlated to maternal BMI in T21 and non-trisomy group, while a positive correlation in SCA group. FF was close related to the result of NIPS and related maternal factors. Though NIPS has increased accuracy, the complexity still should be recognized especially in clinical practice.
摘要：
确定胎儿游离DNA分数（cffDNA）与各种产前特征之间的关系，以更好地指导无创产前筛查（NIPS）的临床应用。我们对27,793例单胎妊娠妇女进行了回顾性队列研究.结果表明，三体/性染色体非整倍体（SCA）与非三体组之间的cffDNA没有显着差异。然而,T18和T13亚组的胎儿分数(FF)明显低于非三体组,而T21组的FF显著高于非三体组。Pearson相关分析显示T21、SCA、和非三体组。发现T21与非三体病例中的产妇年龄与√FF呈负相关，但在SCA组中呈正相关。与T21组的FF下降趋势相比，SCA组无显著差异.T21和非三体组的√FF水平与产妇BMI呈负相关,而SCA组呈正相关。FF与NIPS结果及相关母体因素密切相关。尽管NIPS提高了准确性，复杂性仍然应该被认识到，特别是在临床实践中。
