Department of Obstetrics and Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York, USA.
Prenat Diagn. 2022 Feb;42(2):254-259. doi: 10.1002/pd.6086. Epub 2022 Jan 10.
First-trimester ultrasound is an important component of prenatal care. We investigated the impact of introducing cell-free DNA (cfDNA) aneuploidy screening into routine care, on performance of first-trimester ultrasound.
Retrospective study of patients who had prenatal care at a tertiary referral center. We compared the performance of any first-trimester ultrasound between three different aneuploidy screening protocols, used consecutively during the study period: (1) combined first-trimester screening (FTS); (2) FTS and cfDNA offered together; (3) patients requested to choose between FTS and cfDNA. Secondary outcomes included performance of nuchal translucency (NT), aneuploidy screens and diagnostic genetic procedures.
The number of patients undergoing first-trimester ultrasound remained similar with the second protocol but decreased in the third (68.7% vs. 40.9%, OR 0.32, 95% CI 0.25-0.4, p < 0.001). Diagnostic procedures decreased between protocol 1 and 2 (7.6% vs. 4.4%, OR 0.59, 95% CI 0.37-0.93, p = 0.02) while NT scans decreased between protocol 2 and 3 (6.8% vs. 1.3%, OR 0.18, 95% CI 0.09-0.4, p < 0.001). The rate of FTS decreased over the study period and less women had cfDNA when they had to choose one method (p < 0.001).
Introducing cfDNA screening as an alternative to FTS, resulted in fewer patients receiving ultrasound in the first-trimester.
早期超声是产前保健的重要组成部分。我们研究了在常规护理中引入游离胎儿 DNA（cfDNA）非整倍体筛查对早期超声检查表现的影响。
对在三级转诊中心接受产前保健的患者进行回顾性研究。我们比较了在研究期间连续使用的三种不同非整倍体筛查方案（1）联合早孕期筛查（FTS）；（2）FTS 和 cfDNA 联合提供；（3）患者要求在 FTS 和 cfDNA 之间选择。次要结局包括颈项透明层（NT）、非整倍体筛查和诊断性遗传程序的表现。
第二种方案下进行早孕期超声检查的患者数量保持相似，但第三种方案下数量减少（68.7%比 40.9%，OR 0.32，95%CI 0.25-0.4，p<0.001）。诊断程序在方案 1 和 2 之间减少（7.6%比 4.4%，OR 0.59，95%CI 0.37-0.93，p=0.02），而 NT 扫描在方案 2 和 3 之间减少（6.8%比 1.3%，OR 0.18，95%CI 0.09-0.4，p<0.001）。FTS 的使用率在研究期间下降，当患者必须选择一种方法时，接受 cfDNA 的女性较少（p<0.001）。
将 cfDNA 筛查作为 FTS 的替代方法引入，导致接受早孕期超声检查的患者减少。
