Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Natera, Inc.
- 入组人数
- 99
- 试验地点
- 4
- 主要终点
- Screening capability of proprietary algorithm in the form of a risk results classified as positive result for aneuploidy, negative result for aneuploidy or 'no call.'
研究概览
简要总结
The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than other currently available screening tests.
This will result in fewer unnecessary amniocenteses and Chorionic Villus Sample (CVS) procedures, which are associated with a risk of miscarriage.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Age 18 or older at enrollment
- •Clinically confirmed multiple gestation pregnancy
- •Pregnancy at high risk for genetic aneuploidy as defined below:
- •Confirmed positive aneuploidy by invasive testing
- •Non invasive prenatal testing "high risk" result
- •Serum screening risk of greater than 1:100
- •Ultrasound abnormalities indicative of aneuploidy
- •Structural abnormality of the posterior fossa
- •Holoprosencephaly
- •Structural cardiac anomaly
- •Omphalocele
- •Nuchal translucency greater than or equal to 3.5 mm or a nuchal fold greater Hydrops of unknown etiology
- •Age ≥ 38 years at delivery (if serum screening risk is not less than 1:100)
- •Gestational age between ≥ 9 weeks, 0 days and ≤26 weeks 0 days by best obstetrical estimate
- •Able to provide informed consent
排除标准
- •Women carrying singleton pregnancy
- •Surrogate or egg donor used
结局指标
主要结局
Screening capability of proprietary algorithm in the form of a risk results classified as positive result for aneuploidy, negative result for aneuploidy or 'no call.'
时间窗: 4 years
The primary outcome will be to confirm the diagnostic capability of NATUS risk results (a risk score eg 1:100) classified as positive result for aneuploidy, negative result for aneuploidy or 'no call.' The outcome will be determined as a risk score given for samples collected. This outcome will be compared to the diagnostic testing results of ploidy status. The chromosomal status will be determined from the CVS or amniocentesis results, if available. A cheek swab or saliva sample will be collected from live-born children if there are no CVS or amniocentesis results. This will be used to determine the true ploidy status of the fetuses.
次要结局
未报告次要终点