Department of Obstetrics and Gynaecology, Hospital Universitario 12 de Octubre, Avda, Córdoba s/n, Madrid 28041, Spain, Phone: +034-1-3908310.
Fetal Medicine Unit, Maternal and Child Health and Development Network (SAMID), Department of Obstetrics and Gynaecology, Hospital Universitario 12 de Octubre, Instituto de Investigación Hospital 12 de Octubre (Imas12), Universidad Complutense de Madrid, Madrid, Spain.
J Perinat Med. 2019 Jul 26;47(5):547-552. doi: 10.1515/jpm-2018-0410.
Objective To evaluate the impact of cell-free fetal DNA (cfDNA) test on the number of invasive tests carried out in a public hospital that does not include this test in its services. Methods This was a retrospective cohort study in singleton pregnancies with a high risk (>1:270) on the first-trimester screening for aneuploidies. The options of performing an invasive test or a cfDNA test were explained to all women, the latter being especially recommended to those with a 1:50-1:270 risk (Group 1). If the risk was >1:50 (Group 2), or nuchal translucency (NT) was >99th percentile or there were major malformations (Group 3), invasive test was recommended. Results A total of 755 of 14,398 (5.2%) cases had a high-risk first-trimester screening, of whom 46 cases were excluded due to incomplete follow-up. In the remaining 709 cases, the percentage of aneuploidies was 9.9% (70 cases) and 110 opted for a cfDNA test (15.5%). There were two true-positive results of cfDNA (one in Group 2 and another in Group 3). In Group 1, 67.4% [95% confidence interval (CI) 60.0%-72.1%, P < 0.01] fewer invasive procedures were performed in those who opted for a cfDNA test, without having false negatives. Conclusion Pregnant women with a 1:50-1:270 risk who opt for cfDNA save two out of three invasive tests, without affecting the aneuploidy detection rate.
评估游离胎儿 DNA（cfDNA）检测对一家不提供该检测服务的公立医院进行侵入性检测数量的影响。
这是一项在唐氏综合征筛查高风险（>1:270）的单胎妊娠中进行的回顾性队列研究。向所有女性解释了进行侵入性检测或 cfDNA 检测的选择，特别向风险为 1:50-1:270 的女性推荐后者（1 组）。如果风险>1:50（2 组）或颈项透明层（NT）>99 百分位或存在重大畸形（3 组），则建议进行侵入性检测。
在 14398 例中，有 755 例（5.2%）的唐氏综合征筛查结果为高风险，其中 46 例因随访不完整而被排除。在剩余的 709 例中，染色体异常的比例为 9.9%（70 例），110 例选择了 cfDNA 检测（15.5%）。cfDNA 检测有 2 例真阳性结果（1 例在 2 组，另 1 例在 3 组）。在 1 组中，选择 cfDNA 检测的孕妇中，有 67.4%（95%可信区间 60.0%-72.1%，P<0.01）的侵入性检测减少，而没有假阴性。
选择 cfDNA 检测的 1:50-1:270 风险孕妇可节省三分之二的侵入性检测，而不会影响染色体异常的检出率。
