Non Invasive Prenatal Testing of Down Syndrome From Maternal Blood Sample
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 2,111
- 试验地点
- 2
- 主要终点
- Number or miscarriages
研究概览
简要总结
This is a randomized controlled trial in women at risk following combined prenatal screening for Down Syndrome. Women will be asked about their preferences between NIPT and routine prenatal diagnosis based on a dedicated questionnaire. Women will then be randomized between NIPT and standard invasive prenatal diagnosis.
详细描述
This is a randomized controlled trial in women at risk following combined prenatal screening for Down Syndrome. Women will be asked about their preferences between NIPT and routine prenatal diagnosis based on a dedicated questionnaire. Women will then be randomized between NIPT and standard invasive prenatal diagnosis.
The general objectives are :
- Promote the rapid and large implementation of Non Invasive Prenatal Testing (NIPT) for Down syndrome.
- Improve the management of women at risk after combined first trimester screening and reduce the number of invasive procedures and induced miscarriages .
- Evaluate NIPT medically (in reducing the rate of invasive sampling and related complications, diagnostic performance and feasibility and acceptability in routine practice) and based on cost-analysis in comparison with standard invasive prenatal diagnosis currently proposed .
- Clarify the conditions of implementation and dissemination of NIPT in the overall organization of prenatal screening for trisomy 21 (and provide data to later adjust or not the combination of tests and thresholds).
Promote the organization as networks of professionals involved in prenatal screening for trisomy 21 in order to allow the emergence of a national system of collection of outcomes to improve the quality of practices
The main judgement criteria are:
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •pregnant women over 18
- •at risk for Down syndrome> 1/250 based on combined screening using ultrasound together with maternal serum markers and prior to fetal karyotyping
- •singleton pregnancy
- •pregnancy between 11SA et 18SA
- •willing a fetal karyotype
排除标准
- •risk for Down syndrome< 1/250 or >1/5
- •NT> 3 mm, PAPP-A or beta HCG <0.3 MoM or >5 MoM
- •multiple pregnancy , vanishing twin
- •morphological abnormalities at US
- •Kown chromosomal anomaly in parents
- •Patients not willing a fetal karyotype
结局指标
主要结局
Number or miscarriages
时间窗: at birth
次要结局
- Cost of invasive tests and NIPT in euros(at birth)
- Number or invasive tests(at birth)
- false positive and negative rates of NIPT(At birth)
- Dedicated questionnaire for patients(day 5)