Maiz Nerea, Alzola Irune, Murua Emerson J, Rodríguez Santos Javier
a Fetal Medicine Unit, Obstetrics and Gynecology Service, Clínica Zuatzu , San Sebastian , Spain and.
b Fetal Medicine Unit, Obstetrics and Gynecology Service, BioCruces Health Research Institute, Hospital Universitario Cruces, University of the Basque Country (UPV/EHU) , Biscay , Spain.
J Matern Fetal Neonatal Med. 2016 Nov;29(21):3558-62. doi: 10.3109/14767058.2016.1138467. Epub 2016 Feb 10.
First, to assess what was the uptake of cell free DNA (cfDNA) testing after a combined test and the maternal and fetal factors that influenced this decision, and second, to assess the uptake and factors that influence the choice of invasive testing.
This observational retrospective study included 1083 singleton pregnancies who had a combined test for screening for Down syndrome between 11 (+) (0) and 13 (+) (6) weeks. Multivariate logistic regression analysis was used to determine which factors affected the uptake of cfDNA test and invasive testing among risk for trisomies 21, 18, and 13, maternal characteristics and fetal nuchal translucency (NT) thickness.
Two-hundred fifty-seven (23.7%) women had a cfDNA test, 89 (8.2%) had an invasive test, and 737 (68.1%) had no further test. The uptake of cfDNA increased with the risk for trisomies (p < 0.001), maternal age (p = 0.013), and was higher in nulliparous women (p = 0.004). The uptake of invasive test increased with the risk for trisomies (p < 0.001) and NT thickness (p < 0.001).
This study shows that the uptake of cfDNA testing increases with the risk for trisomies, maternal age, and is higher in nulliparous, whereas the uptake of invasive testing increases with the risk for trisomies and NT thickness.
第一，评估联合检测后游离DNA（cfDNA）检测的接受情况以及影响这一决定的母体和胎儿因素；第二，评估侵入性检测的接受情况以及影响侵入性检测选择的因素。
这项观察性回顾性研究纳入了1083例单胎妊娠，这些孕妇在孕11（+）（0）至13（+）（6）周之间进行了唐氏综合征筛查的联合检测。采用多因素逻辑回归分析来确定哪些因素影响21、18和13三体风险、母体特征以及胎儿颈部透明带（NT）厚度情况下cfDNA检测和侵入性检测的接受情况。
257名（23.7%）女性进行了cfDNA检测，89名（8.2%）进行了侵入性检测，737名（68.1%）未进行进一步检测。cfDNA检测的接受率随着三体风险（p<0.001）、母体年龄（p=0.013）增加，并且初产妇中的接受率更高（p=0.004）。侵入性检测的接受率随着三体风险（p<0.001）和NT厚度（p<0.001）增加。
本研究表明，cfDNA检测的接受率随着三体风险、母体年龄增加，并且在初产妇中更高，而侵入性检测的接受率随着三体风险和NT厚度增加。
