Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, Naples, Italy.
Department of Molecular Medicine and Medical Biotechnologies, School of Medicine, University of Naples Federico II, Naples, Italy.
Prenat Diagn. 2020 Oct;40(11):1482-1488. doi: 10.1002/pd.5800. Epub 2020 Aug 13.
To compare women's experience of first-trimester combined screening (FTCS), with women's experience of an approach that uses the combination of a detailed early anatomy scan and cell-free DNA (cfDNA) analysis.
This was single-center, open label, parallel group, randomized clinical trial. Pregnant women were randomized at the time of their first prenatal visit to either a policy of first-trimester risk assessment based on FTCS, or to a policy of first-trimester risk assessment based on ultrasound findings and cfDNA. FTCS included ultrasound evaluation with crown-rump length, nuchal translucency (NT) measurement, and a detailed ultrasound scan, along with biochemistry (PAPP-A and free beta hCG). In this group, invasive diagnostic testing was offered to patients with risk >1 in 100, or NT >3.5 mm, or any fetal abnormalities on ultrasound. Women randomized in the intervention group received an approach of first-trimester risk assessment based on ultrasound findings and cfDNA. cfDNA analysis included a simultaneous microarray-based assay of non-polymorphic (chromosomes 13, 18, 21, X and Y) and polymorphic loci to estimate chromosome proportion and fetal fraction. In the intervention group, invasive diagnostic testing was offered to patients with abnormal cfDNA screening results, or NT >3.5 mm, or any fetal abnormalities on ultrasound. Participants received pre-test and post-test questionnaires regarding to measure reassurance, satisfaction, and anxiety. The primary outcome was the post-test reassurance, defined as mean score of reassurance post-test questionnaire. The effect of the assigned screening test on the mean of each outcome was quantified as mean difference (MD) with 95% confidence interval (CI).
Forty women with singleton gestations were enrolled in the trial. Mean score for reassurance was significantly higher in the cfDNA group compared to the FTCS group in the pre-test questionnaire (MD 0.80 points, 95% CI 0.27 to 1.33) and in the post-test questionnaire (MD 16.50 points, 95% CI 2.18 to 30.82). Women randomized to the cfDNA group had higher satisfaction and lower mean anxiety score as assessed in the STAI pre-test questionnaire.
First-trimester risk assessment for fetal aneuploidy with a combination of a detailed ultrasound examination and cfDNA is associated with better maternal reassurance and better maternal satisfaction compared to the standard first-trimester combined screening with nuchal translucency, and biochemistry.
Clinicaltrials.gov NCT04077060.
比较第一孕期联合筛查（FTCS）与使用详细早期解剖扫描和游离 DNA（cfDNA）分析相结合的方法在女性中的应用体验。
这是一项单中心、开放标签、平行组、随机临床试验。孕妇在首次产前检查时随机分为基于 FTCS 的第一孕期风险评估政策组，或基于超声发现和 cfDNA 的第一孕期风险评估政策组。FTCS 包括超声评估，包括头臀长、颈项透明层（NT）测量和详细的超声扫描，以及生物化学（PAPP-A 和游离β hCG）。在该组中，对风险>1/100、NT>3.5mm 或超声有任何胎儿异常的患者提供有创诊断性检测。随机分配到干预组的女性接受基于超声发现和 cfDNA 的第一孕期风险评估。cfDNA 分析包括同时进行基于微阵列的非多态性（染色体 13、18、21、X 和 Y）和多态性位点分析，以估计染色体比例和胎儿分数。在干预组中，对 cfDNA 筛查结果异常、NT>3.5mm 或超声有任何胎儿异常的患者提供有创诊断性检测。参与者在接受测试前和测试后接受问卷调查，以评估安心程度、满意度和焦虑程度。主要结局是测试后的安心程度，定义为测试后问卷的平均安心评分。指定筛查测试对每个结局的平均影响量化为平均差异（MD）和 95%置信区间（CI）。
40 名单胎妊娠的女性参加了这项试验。cfDNA 组的预测试问卷（MD 0.80 分，95%CI 0.27 至 1.33）和测试后问卷（MD 16.50 分，95%CI 2.18 至 30.82）的安心评分均显著高于 FTCS 组。随机分配到 cfDNA 组的女性在 STAI 预测试问卷中的满意度较高，焦虑评分较低。
与使用 NT 和生物化学的标准第一孕期联合筛查相比，使用详细的超声检查和 cfDNA 对胎儿非整倍体进行第一孕期风险评估与更好的母亲安心和更好的母亲满意度相关。
Clinicaltrials.gov NCT04077060。
