Prospective Biological Sample Collection Aiming to Validate Non-invasive Prenatal Tests by Analyzing Fetal DNA Present in Maternal Blood Using a Next-generation Digital PCR Technique
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,790
- 试验地点
- 1
- 主要终点
- Evaluation of the non-inferiority of a new non-invasive test for the detection of chromosomal abnormalities by analyzing the fetal DNA present in maternal blood by a new generation digital PCR
研究概览
简要总结
This study will be conducted on pregnant patients for whom there is a suspicion of a chromosomal abnormality of the fetus. These are patients eligible for non-invasive prenatal screening as part of their usual pregnancy surveillance. This research aims to develop and validate a new method for non-invasive prenatal testing.
This prospective collection study will allow the collection of biological samples necessary for the development, testing and validation of these new tests
详细描述
The main objective : of the study is the validation of non-invasive prenatal tests for the detection of chromosomal abnormalities by analyzing the fetal DNA present in maternal blood by a new generation digital PCR.
The secondary objective of this research: is to validate the reliability of the test on both populations (affected and unaffected) and its ability to detect the following anomalies: Triple X and 22q.11.2 Micro-deletion.
Type and methodology of research :
Although the only act of the research being the sampling of a maximum of 3 additional blood tubes for a maximum volume of 30 mL during a blood test as part of the care, this study is qualified as research involving the human person at risk and minimal constraints.
Provisional research calendar :
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 50 Years（Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Pregnant woman between 10 and 40 weeks of pregnancy
- •Gestational age at time of collection of the known sample
- •Maternal age 18-50 years
- •Sex of the fetus or newborn known (confirmed by doctor or karyotype)
- •Number of known fetuses 6.a) for affected samples: result of the karyotype available 6.b) for unaffected samples: preferably, result of the available karyotype; A secondarily negative NIPT result associated with a doctor's confirmation of the delivery of a healthy baby.
- •Have a diagnostic result (such as amniocentesis or CVS) available if NIPT is positive
- •Patients Affiliated to a social security scheme or entitled to.
- •Non-inclusion criteria
- •Confirmed mosaic sample
- •Confirmed maternal mosaicism
- •Recent maternal blood transfusion known
- •Patient who received an organ transplant
- •Patient who underwent surgery
- •Patient on immunotherapy or stem cell therapy and/or other maternal malignancy
- •Patient already included in the study during pregnancy
- •Patient under guardianship or curatorship or safeguard of justice
排除标准
- 未提供
结局指标
主要结局
Evaluation of the non-inferiority of a new non-invasive test for the detection of chromosomal abnormalities by analyzing the fetal DNA present in maternal blood by a new generation digital PCR
时间窗: 18 months
As part of this study, comparative analyses will be carried out: For qualitative variables: Pearson's Chi ² test will be used unless the estimated theoretical number in a cell is less than five, in which case the Yates continuity correction or the exact Fisher test will be applied. For quantitative variables: the t-test or an analysis of Student's variance will be performed. Otherwise, post-hoc analyses will be performed using the Student-Neuman-Keuls test. If the data is not distributed normally, nonparametric tests will be used.
次要结局
未报告次要终点