First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 1,127
- 试验地点
- 1
- 主要终点
- Screen false-positive rate
研究概览
简要总结
Combined first-trimester screening represents the gold standard of risk assessment for the presence of trisomy 21, 18, and 13. The concept is based on the age risk, the measurement of fetal nuchal translucency (NT), and the determination of serum markers free beta-hCG and PAPP-A in maternal blood.
In recent years it has been shown that the risk assessment can be improved by combining in-depth ultrasound and cell-free DNA analysis from maternal blood. In their latest study, the investigators were able to detect all fetuses with trisomy 21, 18, and 13 through this procedure. No normal fetus displayed an increased risk. In contrast, the detection rate in classic, combined first-trimester screening is about 95% and the false-positive rate is 3-5%. In this study the investigator examine the test quality - especially the false positives - of cell-free DNA analysis on trisomy 21, 18 and 13 as well as on the microdeletion 22q in 1000 pregnancies.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •Maternal age of 18 years and more
- •Crown rump length 45 - 84mm
- •Referral for first trimester risk assessment
- •Singleton pregnancy
- •Written consent
排除标准
- •No consent
- •Known parental microdeletion 22q11.2
- •Crown rump length <45mm or >84mm
- •Multiple pregnancies including vanishing twins
研究组 & 干预措施
cfDNA screening
Pregnant women who are referred for FTS or for further follow-up examinations in case of a suspected anomaly or increased nuchal translucency at 11-13 weeks' gestation can be recruited for this study.
干预措施: cfDNA screening (Diagnostic Test)
结局指标
主要结局
Screen false-positive rate
时间窗: 15 month
False-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed in pregnancies with a normal offspring
Screen positive rate
时间窗: 15 month
Screen-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed
Uninformative test rate in cfDNA screening for 22q11.2 deletion
时间窗: 15 month
Rate of uninformative tests will be defined by proportion of cfDNA screening for 22q11.2 deletion without results compared to all cfDNA tests performed
次要结局
未报告次要终点