(1)背景:无创性产前检测(NIPT)是一种使用无细胞胎儿DNA的胎儿非整倍体筛查测试。无细胞DNA(cfDNA)的胎儿片段(FF)来源于胎盘的凋亡滋养层。已知胎儿cfDNA的水平受胎龄的影响,多胎妊娠,产妇体重,和高度。(2)方法:本研究是一项单中心回顾性观察性研究,研究了无创产前检测(NIPT)中无细胞DNA的胎儿分数(FF)与单胎妊娠不良妊娠结局之间的关系。在10周至6天之间共收集了1393个样本,妊娠25周零3天。(3)结果:低FF组的妊娠期高血压疾病(HDP)发生率高于正常FF组(5.17%vs.1.91%,p=0.001)。尽管小于胎龄(SGA)和胎盘早剥的发生率在组间没有显著差异,低FF组的复合结局明显更高(7.76%vs.3.64%,p=0.002)。此外,后来出现HDP或妊娠期糖尿病(GDM)等并发症的女性血浆FF水平明显低于无并发症的女性(p<0.001).调整后,低FF组胎盘受损的可能性显著较高(调整后比值比:1.946).(4)结论:第一和第二孕早期NIPT低FF与不良妊娠结局有关。特别是HDP,表明其作为此类结果的预测标记的潜力。
(1) Background: Non-invasive prenatal testing (NIPT) is a screening test for fetal aneuploidy using cell-free fetal DNA. The fetal fragments (FF) of cell-free DNA (cfDNA) are derived from apoptotic trophoblast of the placenta. The level of fetal cfDNA is known to be influenced by gestational age, multiple pregnancies, maternal weight, and height. (2) Methods: This study is a single-center retrospective observational study which examines the relationship between the fetal fraction (FF) of cell-free DNA in non-invasive prenatal testing (NIPT) and adverse pregnancy outcomes in singleton pregnancies. A total of 1393 samples were collected between 10 weeks and 6 days, and 25 weeks and 3 days of gestation. (3) Results: Hypertensive disease of pregnancy (HDP) occurred more frequently in the low FF group than the normal FF group (5.17% vs. 1.91%, p = 0.001). Although the rates of small for gestational age (SGA) and placental abruption did not significantly differ between groups, the composite outcome was significantly higher in the low FF group (7.76% vs. 3.64%, p = 0.002). Furthermore, women who later experienced complications such as HDP or gestational diabetes mellitus (GDM) had significantly lower plasma FF levels compared to those without complications (p < 0.001). After adjustments, the low FF group exhibited a significantly higher likelihood of placental compromise (adjusted odds ratio: 1.946). (4) Conclusions: Low FF in NIPT during the first and early second trimesters is associated with adverse pregnancy outcomes, particularly HDP, suggesting its potential as a predictive marker for such outcomes.