PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood : Towards First Tier Screening and Beyond
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 7,849
- 试验地点
- 12
- 主要终点
- Gestational age at diagnosis
研究概览
简要总结
This project aims to provide high- quality evidence to inform decisions by health care organisations about using first-tier non-invasive prenatal screening (NIPS) to replace traditional screening tests for trisomy 21, and potentially to screen for other fetal chromosome anomalies. We will compare the current screening approach of second-tier NIPS with the use of first-tier NIPS in a large cohort of pregnant women.
详细描述
There is some data on the performance of NIPS as a first tier screening test but our systematic review has shown that no trial comparing the effectiveness (utility) of 2nd-tier NIPS with that of first-tier NIPS has been published . Further it is important for health care decision makers to have evidence produced in Canada since the geographical context of healthcare can affect uptake as well as patient decision and thus their healthcare trajectories. There is a need for a trial that is between an explanatory trial and a pragmatic trial to provide the types of answer that we aim to document in the present state of knowledge on NIPS-based screening strategies in Canada. Our Objective is to perform a pan-Canadian large-scale comparative utility (clinical outcomes) study of first-tier NIPS (expanded or not) as compared to the new standard of care (NIPS as a 2nd tier test performed much later during pregnancy and only in high risk pregnancies).
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 19 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •Pregnant women 19 years or older wanting prenatal screening
- •10-13+6 wks determined by dating ultrasound or last menstrual period.
- •Not intending to pursue self pay NIPT
排除标准
- •Known fetal anomaly at the time of recruitment
- •Multiple gestation
- •Known twin demise
- •Planned CVS or amnio for known genetic condition.
结局指标
主要结局
Gestational age at diagnosis
时间窗: Up to 24 weeks of gestational age
gestational age at final result in the sub-set of participants that have received a positive NIPS result and that have been offered diagnostic testing
次要结局
- Gestational age at positive screening result(Up to 24 weeks of gestational age)
- proportion of women with no results(Up to 24 weeks of gestational age)
- Gestational age at negative screening result(Up to 24 weeks of gestational age)
- Patient-Reported Experience Measure (PREM) - Score(At 22 weeks of gestation)
- percentage of women undergoing invasive diagnostic testing(Up to 24 weeks of gestational age)
- numbers of days for women with false positive result of screen to wait for result of definite test(Up to 24 weeks of gestational age)
- Change in PROMIS-29 Score(At weeks of gestation 10-13, week 16 and week 22)
- gestational age at termination of pregnancy(Up to 24 weeks of gestational age)
- Change in PROMIS Emotional Distress - Anxiety - Short Form 8a Score(At weeks of gestation 10-13, 16 and 22)
研究者
François Rousseau
Professor-doctor
CHU de Quebec-Universite Laval