Department of Obstetrics and Gynaecology, Monash University, Melbourne, Australia.
Monash Ultrasound for Women, Melbourne, Australia.
Prenat Diagn. 2020 Oct;40(11):1439-1446. doi: 10.1002/pd.5788. Epub 2020 Aug 12.
This study aims to determine the incidence of ultrasound findings that may change clinical management on the day of blood-sampling for cell-free DNA (cfDNA) screening.
A retrospective study was conducted at a tertiary provider of obstetric and gynecological ultrasound in Melbourne, Australia. Individual patient files were reviewed and results were collated for maternal characteristics, pre-cfDNA ultrasound reports, results and test characteristics of both cfDNA and diagnostic testing, and genetic counselling notes. The primary outcome was a potential change in patient management due to findings detected on the pre-cfDNA ultrasound.
Of 6250 pre-cfDNA ultrasounds, 6207 were included in analysis. Of these, 598 (9.6%) pregnancies had a finding on pre-cfDNA ultrasound that had the potential to change management. The reasons for this potential change in management were detection of gestational age below 10 weeks (245, 3.9%), miscarriage (175, 2.8%), demised twin (43, 0.7%), fetal edema (115, 1.9%) and major structural abnormalities (20, 0.3%). These findings were more common in patients of advanced maternal age and in spontaneous conceptions.
An ultrasound prior to cfDNA screening has the potential to change clinical management in almost one in 10 women. The proportion is higher in older age groups and lower in IVF-conceived pregnancies.
本研究旨在确定在进行游离胎儿 DNA（cfDNA）筛查采血当天，超声检查结果可能改变临床管理的发生率。
本研究在澳大利亚墨尔本的一家妇产科超声三级医疗机构进行了一项回顾性研究。对每位患者的档案进行了审查，并对母体特征、cfDNA 筛查前超声报告、cfDNA 和诊断性检测的结果及检测特征以及遗传咨询记录进行了汇总。主要结局为因 cfDNA 筛查前超声检查结果而改变患者管理的可能性。
在 6250 次 cfDNA 筛查前的超声检查中，有 6207 次被纳入分析。其中，598（9.6%）例妊娠的 cfDNA 筛查前超声检查结果可能改变管理方式。改变管理方式的潜在原因包括孕龄<10 周（245，3.9%）、流产（175，2.8%）、死胎（43，0.7%）、胎儿水肿（115，1.9%）和主要结构异常（20，0.3%）。这些发现更常见于高龄产妇和自然受孕的患者中。
cfDNA 筛查前的超声检查可能会改变近十分之一女性的临床管理。在年龄较大的组中比例更高，在 IVF 受孕的妊娠中比例较低。
